[ { "title": "Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.", "journal": "DNA and cell biology", "date": "1991", "authors": "Latham T E, Theophilus B D, Grabowski G A, Smith F I", "reference": { "type": "PubMed", "id": "1899336", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs79653797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79653797" }, { "id": "rs79653797", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79653797" }, { "id": "rs79653797", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79653797" }, { "id": "15214004", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15214004" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "3180993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3180993" } ], "glycoeffect": [], "start_pos": 159, "end_pos": 159, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155238629", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R159", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] } ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs80356769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356769" }, { "id": "rs80356769", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356769" }, { "id": "rs80356769", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80356769#frequency_tab" }, { "id": "rs80356769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80356769" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" } ], "glycoeffect": [], "start_pos": 433, "end_pos": 433, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235772", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V433", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs368060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" }, { "id": "rs368060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368060" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" }, { "id": "rs368060", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" } ], "glycoeffect": [], "start_pos": 495, "end_pos": 495, "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235217", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A495", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.1899336", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation.", "journal": "The Journal of biological chemistry", "date": "2009-05-08", "authors": "Kitatani Kazuyuki, Sheldon Kely, Rajagopalan Vinodh, Anelli Viviana, Jenkins Russell W, Sun Ying, Grabowski Gregory A, Obeid Lina M, Hannun Yusuf A", "reference": { "type": "PubMed", "id": "19279011", "url": "https://pubmed.ncbi.nlm.nih.gov/19279011" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19279011", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.", "journal": "Brain : a journal of neurology", "date": "2009", "authors": "Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW", "reference": { "type": "PubMed", "id": "19286695", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs75671029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75671029" }, { "id": "rs75671029", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75671029" }, { "id": "rs75671029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75671029" }, { "id": "rs75671029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75671029#frequency_tab" }, { "id": "rs75671029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75671029" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "rs75671029", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75671029" } ], "glycoeffect": [], "start_pos": 482, "end_pos": 482, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235256", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D482", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00101.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs80356771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356771" }, { "id": "rs80356771", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356771" }, { "id": "rs80356771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80356771#frequency_tab" }, { "id": "rs80356771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80356771" }, { "id": "12595585", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12595585" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "rs80356771", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs80356771" } ], "glycoeffect": [], "start_pos": 502, "end_pos": 502, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235196", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R502", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.19286695", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.", "journal": "American journal of human genetics", "date": "1990-05", "authors": "Zimran A, Gelbart T, Beutler E", "reference": { "type": "PubMed", "id": "1971142", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.1971142", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Sequence of two alleles responsible for Gaucher disease.", "journal": "DNA and cell biology", "date": "1990", "authors": "Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA", "reference": { "type": "PubMed", "id": "1972019", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs368060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" }, { "id": "rs368060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368060" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" }, { "id": "rs368060", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" } ], "glycoeffect": [], "start_pos": 495, "end_pos": 495, "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235217", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A495", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs80356771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356771" }, { "id": "rs80356771", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356771" }, { "id": "rs80356771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80356771#frequency_tab" }, { "id": "rs80356771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80356771" }, { "id": "12595585", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12595585" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "rs80356771", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs80356771" } ], "glycoeffect": [], "start_pos": 502, "end_pos": 502, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235196", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R502", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.1972019", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.", "journal": "Annals of human genetics", "date": "1990", "authors": "Beutler E, Gelbart T", "reference": { "type": "PubMed", "id": "1974409", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1141814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1141814" }, { "id": "rs1141814", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1141814" }, { "id": "rs1141814", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1141814#frequency_tab" }, { "id": "rs1141814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1141814" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "9295080", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9295080" }, { "id": "rs1141814", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1141814" } ], "glycoeffect": [], "start_pos": 87, "end_pos": 87, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155239934", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R87", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064651" }, { "id": "10636167", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10636167" }, { "id": "11148530", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11148530" }, { "id": "12838552", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12838552" }, { "id": "1333717", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1333717" }, { "id": "15690354", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15690354" }, { "id": "18586596", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18586596" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, { "id": "31130326", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, { "id": "7475546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, { "id": "7627184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, { "id": "8544197", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, { "id": "8790604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, { "id": "9040001", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, { "id": "rs1064651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064651" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235727", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.1974409", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.", "journal": "The New England journal of medicine", "date": "2009", "authors": "Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Durr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG", "reference": { "type": "PubMed", "id": "19846850", "url": "https://pubmed.ncbi.nlm.nih.gov/19846850" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19846850", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease: frequency of the N370S mutation in the Greek population.", "journal": "Clinical genetics", "date": "2010-08", "authors": "Dimitriou E, Moraitou M, Troungos C, Schulpis K, Michelakakis H", "reference": { "type": "PubMed", "id": "20662857", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.20662857", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.", "journal": "American journal of medical genetics", "date": "1990-08", "authors": "Kolodny E H, Firon N, Eyal N, Horowitz M", "reference": { "type": "PubMed", "id": "2117855", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2117855", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel pathogenic mutations in the glucocerebrosidase locus.", "journal": "Molecular genetics and metabolism", "date": "2012", "authors": "Duran R, McNeill A, Mehta A, Hughes D, Cox T, Deegan P, Schapira AH, Hardy J", "reference": { "type": "PubMed", "id": "22658918", "url": "https://pubmed.ncbi.nlm.nih.gov/22658918" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22658918", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Prevalent and rare mutations among Gaucher patients.", "journal": "Gene", "date": "1990-12-15", "authors": "Eyal N, Wilder S, Horowitz M", "reference": { "type": "PubMed", "id": "2269438", "url": "https://pubmed.ncbi.nlm.nih.gov/2269438" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs121908305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908305" }, { "id": "rs121908305", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908305" }, { "id": "2269438", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2269438" } ], "glycoeffect": [], "start_pos": 364, "end_pos": 364, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155236379", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G364", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs121908306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908306" }, { "id": "rs121908306", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908306" }, { "id": "2269438", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2269438" } ], "glycoeffect": [], "start_pos": 381, "end_pos": 381, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155236328", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C381", "disease": [ { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2269438", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.", "journal": "European journal of human genetics : EJHG", "date": "2013-01", "authors": "Saranjam Hamid, Chopra Sameer S, Levy Harvey, Stubblefield Barbara K, Maniwang Emerson, Cohen Ian J, Baris Hagit, Sidransky Ellen, Tayebi Nahid", "reference": { "type": "PubMed", "id": "22713811", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76539814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76539814" }, { "id": "rs76539814", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76539814" }, { "id": "rs76539814", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76539814#frequency_tab" }, { "id": "rs76539814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76539814" }, { "id": "1301953", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1301953" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "rs76539814", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76539814" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 362, "end_pos": 362, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155236384", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T362", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.22713811", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.", "journal": "American journal of human genetics", "date": "1990-03", "authors": "Firon N, Eyal N, Kolodny E H, Horowitz M", "reference": { "type": "PubMed", "id": "2309702", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2309702", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Membrane-bound alpha-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.", "journal": "Mol. Genet. Metab.", "date": "2013", "authors": "Yap Thai Leong, Velayati Arash, Sidransky Ellen, Lee Jennifer C", "reference": { "type": "PubMed", "id": "23266198", "url": "https://pubmed.ncbi.nlm.nih.gov/23266198" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23266198", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos.", "journal": "Clinical genetics", "date": "2013-10", "authors": "Gonz\u00e1lez-Del Rinc\u00f3n M de L, Monroy Jaramillo N, Su\u00e1rez Mart\u00ednez A I, Yescas G\u00f3mez P, Boll Woehrlen M C, L\u00f3pez L\u00f3pez M, Alonso Vilatela M E", "reference": { "type": "PubMed", "id": "23448517", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.23448517", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Complex alleles of the acid beta-glucosidase gene in Gaucher disease.", "journal": "American journal of human genetics", "date": "1990-07", "authors": "Latham T, Grabowski G A, Theophilus B D, Smith F I", "reference": { "type": "PubMed", "id": "2349952", "url": "https://pubmed.ncbi.nlm.nih.gov/2349952" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs78396650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78396650" }, { "id": "rs78396650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78396650" }, { "id": "rs78396650", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs78396650#frequency_tab" }, { "id": "rs78396650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78396650" }, { "id": "2349952", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2349952" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155236426", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A348", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs121908304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908304" }, { "id": "rs121908304", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908304" }, { "id": "2349952", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2349952" } ], "glycoeffect": [], "start_pos": 351, "end_pos": 351, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155236416", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W351", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs121908307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908307" }, { "id": "rs121908307", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908307" }, { "id": "rs121908307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908307" }, { "id": "2349952", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2349952" } ], "glycoeffect": [], "start_pos": 403, "end_pos": 403, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155236261", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S403", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2349952", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.", "journal": "American journal of human genetics", "date": "1990-08", "authors": "Dahl N, Lagerstr\u00f6m M, Erikson A, Pettersson U", "reference": { "type": "PubMed", "id": "2378352", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2378352", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Functional analysis of 11 novel GBA alleles.", "journal": "European journal of human genetics : EJHG", "date": "2014", "authors": "Malini E, Grossi S, Deganuto M, Rosano C, Parini R, Dominisini S, Cariati R, Zampieri S, Bembi B, Filocamo M, Dardis A", "reference": { "type": "PubMed", "id": "24022302", "url": "https://pubmed.ncbi.nlm.nih.gov/24022302" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24022302", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cholesterol glucosylation is catalyzed by transglucosylation reaction of \u03b2-glucosidase 1.", "journal": "Biochemical and biophysical research communications", "date": "2013-11-29", "authors": "Akiyama Hisako, Kobayashi Susumu, Hirabayashi Yoshio, Murakami-Murofushi Kimiko", "reference": { "type": "PubMed", "id": "24211208", "url": "https://pubmed.ncbi.nlm.nih.gov/24211208" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17439-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "Gba1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24211208", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.", "journal": "Gene", "date": "2014", "authors": "Jack A, Amato D, Morris G, Choy FY", "reference": { "type": "PubMed", "id": "24434810", "url": "https://pubmed.ncbi.nlm.nih.gov/24434810" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24434810", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.", "journal": "Annals of hematology", "date": "2014", "authors": "Machaczka M, Klimkowska M", "reference": { "type": "PubMed", "id": "24577513", "url": "https://pubmed.ncbi.nlm.nih.gov/24577513" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24577513", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of mutations in Gaucher patients by cDNA cloning.", "journal": "American journal of human genetics", "date": "1989-03", "authors": "Wigderson M, Firon N, Horowitz Z, Wilder S, Frishberg Y, Reiner O, Horowitz M", "reference": { "type": "PubMed", "id": "2464926", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908295" }, { "id": "rs121908295", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908295" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" } ], "glycoeffect": [], "start_pos": 454, "end_pos": 454, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235708", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P454", "disease": [ { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2464926", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.", "journal": "American journal of human genetics", "date": "1989-08", "authors": "Theophilus B, Latham T, Grabowski G A, Smith F I", "reference": { "type": "PubMed", "id": "2502917", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs80356769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356769" }, { "id": "rs80356769", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356769" }, { "id": "rs80356769", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80356769#frequency_tab" }, { "id": "rs80356769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80356769" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" } ], "glycoeffect": [], "start_pos": 433, "end_pos": 433, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235772", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V433", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064651" }, { "id": "10636167", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10636167" }, { "id": "11148530", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11148530" }, { "id": "12838552", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12838552" }, { "id": "1333717", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1333717" }, { "id": "15690354", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15690354" }, { "id": "18586596", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18586596" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, { "id": "31130326", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, { "id": "7475546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, { "id": "7627184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, { "id": "8544197", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, { "id": "8790604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, { "id": "9040001", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, { "id": "rs1064651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064651" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235727", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs77369218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77369218" }, { "id": "rs77369218", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs77369218" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235726", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D448", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2502917", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.", "journal": "Nucleic acids research", "date": "1989-10-11", "authors": "Theophilus B D, Latham T, Grabowski G A, Smith F I", "reference": { "type": "PubMed", "id": "2508065", "url": "https://pubmed.ncbi.nlm.nih.gov/2508065" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2508065", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Disease variants in genomes of 44 centenarians.", "journal": "Molecular genetics & genomic medicine", "date": "2014-09", "authors": "Freudenberg-Hua Yun, Freudenberg Jan, Vacic Vladimir, Abhyankar Avinash, Emde Anne-Katrin, Ben-Avraham Danny, Barzilai Nir, Oschwald Dayna, Christen Erika, Koppel Jeremy, Greenwald Blaine, Darnell Robert B, Germer Soren, Atzmon Gil, Davies Peter", "reference": { "type": "PubMed", "id": "25333069", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.25333069", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Prediction of severity of Gaucher's disease by identification of mutations at DNA level.", "journal": "Lancet (London, England)", "date": "1989-08-12", "authors": "Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E", "reference": { "type": "PubMed", "id": "2569551", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs121908311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908311" }, { "id": "rs121908311", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908311" }, { "id": "rs121908311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908311" }, { "id": "10466427", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10466427" }, { "id": "12595585", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12595585" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "rs121908311", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908311" } ], "glycoeffect": [], "start_pos": 416, "end_pos": 416, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235823", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G416", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2569551", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.", "journal": "Annals of neurology", "date": "2016", "authors": "Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J, Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V", "reference": { "type": "PubMed", "id": "26528954", "url": "https://pubmed.ncbi.nlm.nih.gov/26528954" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UJC3-1", "protein_name": "Protein Hook homolog 1", "gene_name": "HOOK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75061-1", "protein_name": "Auxilin", "gene_name": "DNAJC6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26528954", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular beta-glucosidases.", "journal": "Journal of lipid research", "date": "2016", "authors": "Marques AR, Mirzaian M, Akiyama H, Wisse P, Ferraz MJ, Gaspar P, Ghauharali-van der Vlugt K, Meijer R, Giraldo P, Alfonso P, Irun P, Dahl M, Karlsson S, Pavlova EV, Cox TM, Scheij S, Verhoek M, Ottenhoff R, van Roomen CP, Pannu NS, van Eijk M, Dekker N, Boot RG, Overkleeft HS, Blommaart E, Hirabayashi Y, Aerts JM", "reference": { "type": "PubMed", "id": "26724485", "url": "https://pubmed.ncbi.nlm.nih.gov/26724485" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q69ZF3-1", "protein_name": "Non-lysosomal glucosylceramidase", "gene_name": "Gba2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9H227-1", "protein_name": "Cytosolic beta-glucosidase", "gene_name": "GBA3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26724485", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.", "journal": "Human molecular genetics", "date": "2016", "authors": "Magalhaes J, Gegg ME, Migdalska-Richards A, Doherty MK, Whitfield PD, Schapira AH", "reference": { "type": "PubMed", "id": "27378698", "url": "https://pubmed.ncbi.nlm.nih.gov/27378698" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17439-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "Gba1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27378698", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.", "journal": "Blood cells, molecules & diseases", "date": "2018-02", "authors": "Basgalupp Suelen P, Siebert Marina, Vairo Filippo Pinto E, Chami Anisse Marques, Pinto Louise Lapagesse de Camargo, Carvalho Gerson da S, Schwartz Ida Vanessa D", "reference": { "type": "PubMed", "id": "27825739", "url": "https://pubmed.ncbi.nlm.nih.gov/27825739" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27825739", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.", "journal": "The New England journal of medicine", "date": "1987-03-05", "authors": "Tsuji S, Choudary P V, Martin B M, Stubblefield B K, Mayor J A, Barranger J A, Ginns E I", "reference": { "type": "PubMed", "id": "2880291", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.2880291", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The human glucocerebrosidase gene and pseudogene: structure and evolution.", "journal": "Genomics", "date": "1989", "authors": "Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E", "reference": { "type": "PubMed", "id": "2914709", "url": "https://pubmed.ncbi.nlm.nih.gov/2914709" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2914709", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Tsuji S, Choudary PV, Martin BM, Winfield S, Barranger JA, Ginns EI", "reference": { "type": "PubMed", "id": "3001061", "url": "https://pubmed.ncbi.nlm.nih.gov/3001061" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3001061", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease type 3c: New patients with unique presentations and review of the literature.", "journal": "Molecular genetics and metabolism", "date": "2019-06", "authors": "Kurolap Alina, Del Toro Mireia, Spiegel Ronen, Gutstein Ariel, Shafir Gideon, Cohen Ian J, Barrab\u00e9s Jos\u00e9 A, Feldman Hagit Baris", "reference": { "type": "PubMed", "id": "31130326", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064651" }, { "id": "10636167", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10636167" }, { "id": "11148530", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11148530" }, { "id": "12838552", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12838552" }, { "id": "1333717", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1333717" }, { "id": "15690354", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15690354" }, { "id": "18586596", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18586596" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, { "id": "31130326", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, { "id": "7475546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, { "id": "7627184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, { "id": "8544197", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, { "id": "8790604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, { "id": "9040001", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, { "id": "rs1064651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064651" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235727", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.31130326", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient.", "journal": "DNA (Mary Ann Liebert, Inc.)", "date": "1988-10", "authors": "Graves P N, Grabowski G A, Eisner R, Palese P, Smith F I", "reference": { "type": "PubMed", "id": "3180993", "url": "https://pubmed.ncbi.nlm.nih.gov/3180993" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs79653797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79653797" }, { "id": "rs79653797", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79653797" }, { "id": "rs79653797", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79653797" }, { "id": "15214004", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15214004" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "3180993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3180993" } ], "glycoeffect": [], "start_pos": 159, "end_pos": 159, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155238629", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R159", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] } ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.3180993", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis.", "journal": "Scientific reports", "date": "2019-12-11", "authors": "Siitonen Ari, Kyt\u00f6vuori Laura, Nalls Mike A, Gibbs Raphael, Hernandez Dena G, Ylikotila Pauli, Peltonen Markku, Singleton Andrew B, Majamaa Kari", "reference": { "type": "PubMed", "id": "31827228", "url": "https://pubmed.ncbi.nlm.nih.gov/31827228" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs2230288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230288" }, { "id": "rs2230288", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2230288" }, { "id": "rs2230288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230288" }, { "id": "rs2230288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2230288#frequency_tab" }, { "id": "rs2230288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2230288" }, { "id": "10079102", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10079102" }, { "id": "11903352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11903352" }, { "id": "15146461", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15146461" }, { "id": "1864608", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1864608" }, { "id": "31827228", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31827228" } ], "glycoeffect": [], "start_pos": 365, "end_pos": 365, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155236376", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E365", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.31827228", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.", "journal": "Molecular genetics and metabolism reports", "date": "2020-09", "authors": "Dimitriou Evangelia, Moraitou Marina, Cozar M\u00f3nica, Serra-Vinardell Jenny, Vilageliu Llu\u00efsa, Grinberg Daniel, Mavridou Irene, Michelakakis Helen", "reference": { "type": "PubMed", "id": "32547927", "url": "https://pubmed.ncbi.nlm.nih.gov/32547927" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32547927", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988-04", "authors": "Tsuji S, Martin B M, Barranger J A, Stubblefield B K, LaMarca M E, Ginns E I", "reference": { "type": "PubMed", "id": "3353383", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.3353383", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural analysis of the human glucocerebrosidase genes.", "journal": "DNA", "date": "1988", "authors": "Reiner O, Wigderson M, Horowitz M", "reference": { "type": "PubMed", "id": "3359914", "url": "https://pubmed.ncbi.nlm.nih.gov/3359914" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3359914", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.", "journal": "PloS one", "date": "2021", "authors": "Polinski Nicole K, Martinez Terina N, Gorodinsky Alexander, Gareus Ralph, Sasner Michael, Herberth Mark, Switzer Robert, Ahmad Syed O, Cosden Mali, Kandebo Monika, Drolet Robert E, Buckett Peter D, Shan Weisong, Chen Yi, Pellegrino Lee J, Ellsworth Gregory D, Dungan Leo B, Hirst Warren D, Clark Sean W, Dave Kuldip D", "reference": { "type": "PubMed", "id": "34106956", "url": "https://pubmed.ncbi.nlm.nih.gov/34106956" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34106956", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene.", "journal": "Frontiers in pediatrics", "date": "2023", "authors": "Liu Qi, Shen Zongrui, Pan Hong, Ma Shunfei, Xiong Fu, He Fei", "reference": { "type": "PubMed", "id": "36776904", "url": "https://pubmed.ncbi.nlm.nih.gov/36776904" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36776904", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The human glucocerebrosidase gene has two functional ATG initiator codons.", "journal": "Am. J. Hum. Genet.", "date": "1987", "authors": "Sorge J A, West C, Kuhl W, Treger L, Beutler E", "reference": { "type": "PubMed", "id": "3687939", "url": "https://pubmed.ncbi.nlm.nih.gov/3687939" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3687939", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1985", "authors": "Sorge J, West C, Westwood B, Beutler E", "reference": { "type": "PubMed", "id": "3864160", "url": "https://pubmed.ncbi.nlm.nih.gov/3864160" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3864160", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.", "journal": "Journal of neurochemistry", "date": "2024-09", "authors": "Onal G, Yal\u00e7\u0131n-\u00c7akmakl\u0131 G, \u00d6z\u00e7elik C E, Boussaad I, \u015eeker U \u00d6 \u015e, Fernandes Hugo J R, Demir H, Kr\u00fcger R, Elibol B, D\u00f6kmeci S, Salman M M", "reference": { "type": "PubMed", "id": "38641924", "url": "https://pubmed.ncbi.nlm.nih.gov/38641924" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38641924", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Occupational Pesticide Exposure in Parkinson's Disease Related to GBA and LRRK2 Variants.", "journal": "Journal of Parkinson's disease", "date": "2024", "authors": "Brown Ethan G, Goldman Samuel M, Coffey Christopher S, Siderowf Andrew, Simuni Tanya, Meng Cheryl, Brumm Michael C, Caspell-Garcia Chelsea, Marek Kenneth, Tanner Caroline M,", "reference": { "type": "PubMed", "id": "38820021", "url": "https://pubmed.ncbi.nlm.nih.gov/38820021" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38820021", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.", "journal": "Science advances", "date": "2024-06-28", "authors": "Gustavsson Emil K, Sethi Siddharth, Gao Yujing, Brenton Jonathan W, Garc\u00eda-Ruiz Sonia, Zhang David, Garza Raquel, Reynolds Regina H, Evans James R, Chen Zhongbo, Grant-Peters Melissa, Macpherson Hannah, Montgomery Kylie, Dore Rhys, Wernick Anna I, Arber Charles, Wray Selina, Gandhi Sonia, Esselborn Julian, Blauwendraat Cornelis, Douse Christopher H, Adami Anita, Atacho Diahann A M, Kouli Antonina, Quaegebeur Annelies, Barker Roger A, Englund Elisabet, Platt Frances, Jakobsson Johan, Wood Nicholas W, Houlden Henry, Saini Harpreet, Bento Carla F, Hardy John, Ryten Mina", "reference": { "type": "PubMed", "id": "38924406", "url": "https://pubmed.ncbi.nlm.nih.gov/38924406" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38924406", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "6-O-alkyl 4-methylumbelliferyl-\u03b2-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols.", "journal": "Journal of lipid research", "date": "2024-11", "authors": "Bannink Stef, Bila Kateryna O, van Weperen Joosje, Ligthart Nina A M, Ferraz Maria J, Boot Rolf G, van der Vliet Daan, Boer Daphne E C, Overkleeft Herman S, Artola Marta, Aerts Johannes M F G", "reference": { "type": "PubMed", "id": "39395789", "url": "https://pubmed.ncbi.nlm.nih.gov/39395789" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39395789", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1984", "authors": "Ginns E I, Choudary P V, Martin B M, Winfield S, Stubblefield B, Mayor J, Merkle-Lehman D, Murray G J, Bowers L A, Barranger J A", "reference": { "type": "PubMed", "id": "6091633", "url": "https://pubmed.ncbi.nlm.nih.gov/6091633" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6091633", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.", "journal": "Lancet (London, England)", "date": "1995", "authors": "Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, Ronen S, Tafakjdi M, Horowitz M, Zimran A", "reference": { "type": "PubMed", "id": "7475546", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064651" }, { "id": "10636167", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10636167" }, { "id": "11148530", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11148530" }, { "id": "12838552", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12838552" }, { "id": "1333717", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1333717" }, { "id": "15690354", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15690354" }, { "id": "18586596", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18586596" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, { "id": "31130326", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, { "id": "7475546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, { "id": "7627184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, { "id": "8544197", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, { "id": "8790604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, { "id": "9040001", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, { "id": "rs1064651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064651" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235727", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.7475546", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease in Spanish patients: analysis of eight mutations.", "journal": "Human mutation", "date": "1995", "authors": "Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzalez-Duarte R, Grinberg D, Chabas A", "reference": { "type": "PubMed", "id": "7627184", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064651" }, { "id": "10636167", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10636167" }, { "id": "11148530", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11148530" }, { "id": "12838552", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12838552" }, { "id": "1333717", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1333717" }, { "id": "15690354", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15690354" }, { "id": "18586596", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18586596" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, { "id": "31130326", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, { "id": "7475546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, { "id": "7627184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, { "id": "8544197", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, { "id": "8790604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, { "id": "9040001", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, { "id": "rs1064651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064651" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235727", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.7627184", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.", "journal": "Human mutation", "date": "1995", "authors": "Choy FY, Wei C", "reference": { "type": "PubMed", "id": "7627192", "url": "https://pubmed.ncbi.nlm.nih.gov/7627192" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7627192", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Five new Gaucher disease mutations.", "journal": "Blood cells, molecules & diseases", "date": "1995", "authors": "Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P", "reference": { "type": "PubMed", "id": "7655857", "url": "https://pubmed.ncbi.nlm.nih.gov/7655857" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7655857", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.", "journal": "Human genetics", "date": "1995-06", "authors": "Ida H, Iwasawa K, Kawame H, Rennert O M, Maekawa K, Eto Y", "reference": { "type": "PubMed", "id": "7789963", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs387906315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387906315" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "8889578", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8889578" } ], "glycoeffect": [], "start_pos": 29, "end_pos": 29, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155240661", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L29", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.7789963", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?", "journal": "Biochemical medicine and metabolic biology", "date": "1994-10", "authors": "Strasberg P M, Skomorowski M A, Warren I B, Hilson W L, Callahan J W, Clarke J T", "reference": { "type": "PubMed", "id": "7857677", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs368060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" }, { "id": "rs368060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368060" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" }, { "id": "rs368060", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" } ], "glycoeffect": [], "start_pos": 495, "end_pos": 495, "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235217", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A495", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.7857677", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Miao S, McCarter JD, Grace ME, Grabowski GA, Aebersold R, Withers SG", "reference": { "type": "PubMed", "id": "7908905", "url": "https://pubmed.ncbi.nlm.nih.gov/7908905" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 379, "end_pos": 379, "sequence_org": "E", "sequence_mut": "G", "comment": "1000-fold decreases of glucosylceramidase activity.", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" }, { "database": "PubMed", "id": "7908905", "url": "https://pubmed.ncbi.nlm.nih.gov/7908905" } ], "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.7908905", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient.", "journal": "Human molecular genetics", "date": "1994-05", "authors": "Choy F Y, Wei C, Applegarth D A, Yong S L", "reference": { "type": "PubMed", "id": "7915932", "url": "https://pubmed.ncbi.nlm.nih.gov/7915932" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7915932", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.", "journal": "American journal of medical genetics", "date": "1994", "authors": "Choy FY, Wei C, Applegarth DA, McGillivray BC", "reference": { "type": "PubMed", "id": "7916532", "url": "https://pubmed.ncbi.nlm.nih.gov/7916532" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7916532", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.", "journal": "Human molecular genetics", "date": "1994-07", "authors": "Uchiyama A, Tomatsu S, Kondo N, Suzuki Y, Shimozawa N, Fukuda S, Sukegawa K, Taki N, Inamori H, Orii T", "reference": { "type": "PubMed", "id": "7981693", "url": "https://pubmed.ncbi.nlm.nih.gov/7981693" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7981693", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.", "journal": "Human genetics", "date": "1994", "authors": "Tuteja R, Tuteja N, Lilliu F, Bembi B, Galanello R, Cao A, Baralle FE", "reference": { "type": "PubMed", "id": "8076951", "url": "https://pubmed.ncbi.nlm.nih.gov/8076951" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8076951", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Two new Gaucher disease mutations.", "journal": "Human genetics", "date": "1994", "authors": "Beutler E, Gelbart T", "reference": { "type": "PubMed", "id": "8112750", "url": "https://pubmed.ncbi.nlm.nih.gov/8112750" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8112750", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations causing Gaucher disease.", "journal": "Hum. Mutat.", "date": "1994", "authors": "Horowitz M, Zimran A", "reference": { "type": "PubMed", "id": "8118460", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs368060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" }, { "id": "rs368060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368060" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" }, { "id": "rs368060", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" } ], "glycoeffect": [], "start_pos": 495, "end_pos": 495, "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235217", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A495", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8118460", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.", "journal": "Gene", "date": "1993", "authors": "Imai K, Nakamura M, Yamada M, Asano A, Yokoyama S, Tsuji S, Ginns EI", "reference": { "type": "PubMed", "id": "8294033", "url": "https://pubmed.ncbi.nlm.nih.gov/8294033" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8294033", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.", "journal": "The Journal of biological chemistry", "date": "1994-01-21", "authors": "Grace M E, Newman K M, Scheinker V, Berg-Fussman A, Grabowski G A", "reference": { "type": "PubMed", "id": "8294487", "url": "https://pubmed.ncbi.nlm.nih.gov/8294487" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 482, "end_pos": 482, "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of glucosylceramidase activity.", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" }, { "database": "PubMed", "id": "8294487", "url": "https://pubmed.ncbi.nlm.nih.gov/8294487" } ], "uniprot_canonical_ac": "P04062-1" }, { "start_pos": 482, "end_pos": 482, "sequence_org": "D", "sequence_mut": "G", "comment": "Decreased glucosylceramidase activity.", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" }, { "database": "PubMed", "id": "8294487", "url": "https://pubmed.ncbi.nlm.nih.gov/8294487" } ], "uniprot_canonical_ac": "P04062-1" }, { "start_pos": 482, "end_pos": 482, "sequence_org": "D", "sequence_mut": "S", "comment": "Severe decrease of glucosylceramidase activity.", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" }, { "database": "PubMed", "id": "8294487", "url": "https://pubmed.ncbi.nlm.nih.gov/8294487" } ], "uniprot_canonical_ac": "P04062-1" }, { "start_pos": 501, "end_pos": 501, "sequence_org": "N", "sequence_mut": "D", "comment": "Loss of glucosylceramidase activity.", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" }, { "database": "PubMed", "id": "8294487", "url": "https://pubmed.ncbi.nlm.nih.gov/8294487" } ], "uniprot_canonical_ac": "P04062-1" }, { "start_pos": 501, "end_pos": 501, "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of glucosylceramidase activity.", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" }, { "database": "PubMed", "id": "8294487", "url": "https://pubmed.ncbi.nlm.nih.gov/8294487" } ], "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8294487", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of six new Gaucher disease mutations.", "journal": "Genomics", "date": "1993-01", "authors": "Beutler E, Gelbart T, West C", "reference": { "type": "PubMed", "id": "8432537", "url": "https://pubmed.ncbi.nlm.nih.gov/8432537" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8432537", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.", "journal": "The Journal of clinical investigation", "date": "1993-03", "authors": "van Weely S, van den Berg M, Barranger J A, Sa Miranda M C, Tager J M, Aerts J M", "reference": { "type": "PubMed", "id": "8450045", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8450045", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.", "journal": "Journal of medical genetics", "date": "1993-04", "authors": "Walley A J, Barth M L, Ellis I, Fensom A H, Harris A", "reference": { "type": "PubMed", "id": "8487270", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8487270", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993-06-15", "authors": "Beutler E", "reference": { "type": "PubMed", "id": "8516282", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908299" }, { "id": "rs121908299", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908299" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" } ], "glycoeffect": [], "start_pos": 161, "end_pos": 161, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155238624", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P161", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs121908300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908300" }, { "id": "rs121908300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908300" }, { "id": "rs121908300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908300" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 251, "end_pos": 251, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155238144", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y251", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs397518433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397518433" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" } ], "glycoeffect": [], "start_pos": 25, "end_pos": 25, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155240673", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L25", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs387906315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387906315" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "8889578", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8889578" } ], "glycoeffect": [], "start_pos": 29, "end_pos": 29, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155240661", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L29", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs80356768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356768" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "rs2148071537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148071537" } ], "glycoeffect": [], "start_pos": 422, "end_pos": 422, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235752_155235806", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L422", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs121908301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908301" }, { "id": "rs121908301", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908301" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" } ], "glycoeffect": [], "start_pos": 517, "end_pos": 517, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235057", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G517", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs75822236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75822236" }, { "id": "rs75822236", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75822236" }, { "id": "rs75822236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75822236" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" } ], "glycoeffect": [], "start_pos": 535, "end_pos": 535, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235002", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R535", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8516282", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.", "journal": "Journal of medical genetics", "date": "1995-09", "authors": "Chab\u00e1s A, Cormand B, Grinberg D, Burguera J M, Balcells S, Merino J L, Mate I, Sobrino J A, Gonz\u00e0lez-Duarte R, Vilageliu L", "reference": { "type": "PubMed", "id": "8544197", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064651" }, { "id": "10636167", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10636167" }, { "id": "11148530", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11148530" }, { "id": "12838552", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12838552" }, { "id": "1333717", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1333717" }, { "id": "15690354", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15690354" }, { "id": "18586596", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18586596" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, { "id": "31130326", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, { "id": "7475546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, { "id": "7627184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, { "id": "8544197", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, { "id": "8790604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, { "id": "9040001", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, { "id": "rs1064651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064651" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235727", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8544197", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D).", "journal": "British journal of haematology", "date": "1995-10", "authors": "Walley A J, Ellis I, Harris A", "reference": { "type": "PubMed", "id": "8547070", "url": "https://pubmed.ncbi.nlm.nih.gov/8547070" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8547070", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.", "journal": "Journal of inherited metabolic disease", "date": "1995", "authors": "Michelakakis H, Dimitriou E, Van Weely S, Boot R G, Mavridou I, Verhoek M, Aerts J M", "reference": { "type": "PubMed", "id": "8598642", "url": "https://pubmed.ncbi.nlm.nih.gov/8598642" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8598642", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.", "journal": "American journal of human genetics", "date": "1996-09", "authors": "Tayebi N, Cushner S, Sidransky E", "reference": { "type": "PubMed", "id": "8751878", "url": "https://pubmed.ncbi.nlm.nih.gov/8751878" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs397518434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397518434" }, { "id": "8751878", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8751878" } ], "glycoeffect": [], "start_pos": 178, "end_pos": 178, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155238575", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P178", "disease": [ { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8751878", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.", "journal": "Neurology", "date": "1996", "authors": "Seeman PJ, Finckh U, Hoppner J, Lakner V, Liebisch I, Grau G, Rolfs A", "reference": { "type": "PubMed", "id": "8780099", "url": "https://pubmed.ncbi.nlm.nih.gov/8780099" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8780099", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Glucocerebrosidase mutations in Gaucher disease.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "1994", "authors": "Beutler E, Demina A, Gelbart T", "reference": { "type": "PubMed", "id": "8790604", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064651" }, { "id": "10636167", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10636167" }, { "id": "11148530", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11148530" }, { "id": "12838552", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12838552" }, { "id": "1333717", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1333717" }, { "id": "15690354", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15690354" }, { "id": "18586596", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18586596" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, { "id": "31130326", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, { "id": "7475546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, { "id": "7627184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, { "id": "8544197", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, { "id": "8790604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, { "id": "9040001", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, { "id": "rs1064651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064651" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235727", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8790604", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.", "journal": "Human mutation", "date": "1996", "authors": "Kim JW, Liou BB, Lai MY, Ponce E, Grabowski GA", "reference": { "type": "PubMed", "id": "8829654", "url": "https://pubmed.ncbi.nlm.nih.gov/8829654" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs364897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs364897" }, { "id": "rs364897", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs364897" }, { "id": "rs364897", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs364897" }, { "id": "rs364897", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs364897#frequency_tab" }, { "id": "rs364897", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs364897" }, { "id": "12595585", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12595585" }, { "id": "15146461", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15146461" }, { "id": "8829654", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8829654" }, { "id": "rs364897", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs364897" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155238215", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N227", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs121908302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908302" }, { "id": "rs121908302", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908302" }, { "id": "8829654", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8829654" } ], "glycoeffect": [], "start_pos": 54, "end_pos": 54, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155240033", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V54", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs77829017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77829017" }, { "id": "rs77829017", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77829017" }, { "id": "rs77829017", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs77829017" }, { "id": "8829654", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8829654" } ], "glycoeffect": [], "start_pos": 85, "end_pos": 85, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155239939", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G85", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] } ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8829654", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.", "journal": "Human mutation", "date": "1996", "authors": "Cormand B, Vilageliu L, Balcells S, Gonzalez-Duarte R, Chabas A, Grinberg D", "reference": { "type": "PubMed", "id": "8829663", "url": "https://pubmed.ncbi.nlm.nih.gov/8829663" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8829663", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.", "journal": "Human mutation", "date": "1996", "authors": "Amaral O, Pinto E, Fortuna M, Lacerda L, Sa Miranda MC", "reference": { "type": "PubMed", "id": "8889591", "url": "https://pubmed.ncbi.nlm.nih.gov/8889591" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8889591", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.", "journal": "Journal of medical genetics", "date": "1996-02", "authors": "Sidransky E, Tayebi N, Stubblefield B K, Eliason W, Klineburgess A, Pizzolato G P, Cox J N, Porta J, Bottani A, DeLozier-Blanchet C D", "reference": { "type": "PubMed", "id": "8929950", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs421016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs421016" }, { "id": "rs421016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs421016" }, { "id": "rs421016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs421016" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "17620502", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17620502" }, { "id": "18022370", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18022370" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "18541817", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18541817" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "22713811", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22713811" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "23448517", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23448517" }, { "id": "2378352", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2378352" }, { "id": "2464926", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2464926" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "2880291", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2880291" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" } ], "glycoeffect": [], "start_pos": 483, "end_pos": 483, "subjects_tested": "9251", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235252", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs368060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" }, { "id": "rs368060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368060" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8118460" }, { "id": "8929950", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8929950" }, { "id": "rs368060", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" } ], "glycoeffect": [], "start_pos": 495, "end_pos": 495, "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235217", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A495", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.8929950", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The molecular characterization of Gaucher disease in South Africa.", "journal": "Clinical genetics", "date": "1996", "authors": "Morar B, Lane AB", "reference": { "type": "PubMed", "id": "8937765", "url": "https://pubmed.ncbi.nlm.nih.gov/8937765" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8937765", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "D409H/D409H genotype in Gaucher-like disease.", "journal": "Journal of medical genetics", "date": "1997", "authors": "Uyama E, Uchino M, Ida H, Eto Y, Owada M", "reference": { "type": "PubMed", "id": "9040001", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1064651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064651" }, { "id": "rs1064651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1064651" }, { "id": "10636167", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10636167" }, { "id": "11148530", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11148530" }, { "id": "12838552", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12838552" }, { "id": "1333717", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1333717" }, { "id": "15690354", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15690354" }, { "id": "18586596", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18586596" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "2502917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2502917" }, { "id": "31130326", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/31130326" }, { "id": "7475546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7475546" }, { "id": "7627184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7627184" }, { "id": "8544197", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8544197" }, { "id": "8790604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8790604" }, { "id": "9040001", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9040001" }, { "id": "rs1064651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1064651" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235727", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.9040001", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.", "journal": "Journal of inherited metabolic disease", "date": "1997", "authors": "Ida H, Rennert OM, Kawame H, Maekawa K, Eto Y", "reference": { "type": "PubMed", "id": "9061570", "url": "https://pubmed.ncbi.nlm.nih.gov/9061570" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9061570", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Grace ME, Desnick RJ, Pastores GM", "reference": { "type": "PubMed", "id": "9153297", "url": "https://pubmed.ncbi.nlm.nih.gov/9153297" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9153297", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.", "journal": "American journal of medical genetics", "date": "1997", "authors": "Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabas A", "reference": { "type": "PubMed", "id": "9182788", "url": "https://pubmed.ncbi.nlm.nih.gov/9182788" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9182788", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Effect of saposins A and C on the enzymatic hydrolysis of liposomal glucosylceramide.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Vaccaro AM, Tatti M, Ciaffoni F, Salvioli R, Barca A, Scerch C", "reference": { "type": "PubMed", "id": "9201993", "url": "https://pubmed.ncbi.nlm.nih.gov/9201993" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9201993", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.", "journal": "American journal of medical genetics", "date": "1997", "authors": "Choy FY, Humphries ML, Shi H", "reference": { "type": "PubMed", "id": "9217217", "url": "https://pubmed.ncbi.nlm.nih.gov/9217217" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9217217", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.", "journal": "American journal of medical genetics", "date": "1996-10-28", "authors": "Choy F Y, Wei C, Levin D", "reference": { "type": "PubMed", "id": "9240741", "url": "https://pubmed.ncbi.nlm.nih.gov/9240741" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9240741", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutation analysis in 46 British and Irish patients with Gaucher's disease.", "journal": "Archives of disease in childhood", "date": "1997", "authors": "Hatton CE, Cooper A, Whitehouse C, Wraith JE", "reference": { "type": "PubMed", "id": "9279145", "url": "https://pubmed.ncbi.nlm.nih.gov/9279145" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9279145", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.", "journal": "American journal of medical genetics", "date": "1997-10-03", "authors": "Rockah R, Narinsky R, Hatskelzon L, Frisch A", "reference": { "type": "PubMed", "id": "9295080", "url": "https://pubmed.ncbi.nlm.nih.gov/9295080" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1141814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1141814" }, { "id": "rs1141814", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1141814" }, { "id": "rs1141814", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1141814#frequency_tab" }, { "id": "rs1141814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1141814" }, { "id": "1974409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1974409" }, { "id": "9295080", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9295080" }, { "id": "rs1141814", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1141814" } ], "glycoeffect": [], "start_pos": 87, "end_pos": 87, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155239934", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R87", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.9295080", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Hematologically important mutations: Gaucher disease.", "journal": "Blood Cells Mol. Dis.", "date": "1998", "authors": "Beutler E, Gelbart T", "reference": { "type": "PubMed", "id": "9516376", "url": "https://pubmed.ncbi.nlm.nih.gov/9516376" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9516376", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Six new Gaucher disease mutations.", "journal": "Acta haematologica", "date": "1998", "authors": "Demina A, Beutler E", "reference": { "type": "PubMed", "id": "9554454", "url": "https://pubmed.ncbi.nlm.nih.gov/9554454" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9554454", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.", "journal": "Human mutation", "date": "1998", "authors": "Cormand B, Grinberg D, Gort L, Chabas A, Vilageliu L", "reference": { "type": "PubMed", "id": "9554746", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs76763715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76763715" }, { "id": "rs76763715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76763715" }, { "id": "rs76763715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76763715#frequency_tab" }, { "id": "rs76763715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76763715" }, { "id": "10796875", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10796875" }, { "id": "1348297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1348297" }, { "id": "18332251", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18332251" }, { "id": "1897529", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1897529" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "19286695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19286695" }, { "id": "1971142", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1971142" }, { "id": "20662857", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/20662857" }, { "id": "2117855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2117855" }, { "id": "2309702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309702" }, { "id": "25333069", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25333069" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "3353383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3353383" }, { "id": "7789963", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7789963" }, { "id": "8450045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8450045" }, { "id": "8487270", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8487270" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "9554746", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9554746" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235843", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N409", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.9554746", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.", "journal": "American journal of medical genetics", "date": "1998", "authors": "Choy FY, Humphries ML, Ben-Yoseph Y", "reference": { "type": "PubMed", "id": "9637431", "url": "https://pubmed.ncbi.nlm.nih.gov/9637431" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9637431", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.", "journal": "Clinical genetics", "date": "1998", "authors": "Parenti G, Filocamo M, Titomanlio L, Rizzolo G, Silvestro E, Perretti A, Gatti R, Andria G", "reference": { "type": "PubMed", "id": "9650766", "url": "https://pubmed.ncbi.nlm.nih.gov/9650766" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs121908308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908308" }, { "id": "rs121908308", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908308#frequency_tab" }, { "id": "rs121908308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908308" }, { "id": "9650766", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9650766" } ], "glycoeffect": [], "start_pos": 392, "end_pos": 392, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155236295", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R392", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.9650766", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.", "journal": "American journal of human genetics", "date": "1998-08", "authors": "Germain D P, Puech J P, Caillaud C, Kahn A, Poenaru L", "reference": { "type": "PubMed", "id": "9683600", "url": "https://pubmed.ncbi.nlm.nih.gov/9683600" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9683600", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.", "journal": "Blood cells, molecules & diseases", "date": "1998", "authors": "Sinclair G, Choy FY, Humphries L", "reference": { "type": "PubMed", "id": "9851895", "url": "https://pubmed.ncbi.nlm.nih.gov/9851895" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9851895", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.", "journal": "American journal of medical genetics", "date": "1998-12-04", "authors": "Cormand B, Harboe T L, Gort L, Campoy C, Blanco M, Chamoles N, Chab\u00e1s A, Vilageliu L, Grinberg D", "reference": { "type": "PubMed", "id": "9856561", "url": "https://pubmed.ncbi.nlm.nih.gov/9856561" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P04062-1", "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprotkb/P04062" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9856561", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "cDNA characterization and chromosomal mapping of human Golgi SNARE GS27 and GS28 to chromosome 17.", "journal": "Genomics", "date": "1999", "authors": "Bui TD, Levy ER, Subramaniam VN, Lowe SL, Hong W", "reference": { "type": "PubMed", "id": "10198168", "url": "https://pubmed.ncbi.nlm.nih.gov/10198168" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95249-1", "protein_name": "Golgi SNAP receptor complex member 1", "gene_name": "GOSR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14653", "url": "https://www.uniprot.org/uniprotkb/O14653" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10198168", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.", "journal": "American journal of human genetics", "date": "2011", "authors": "Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF", "reference": { "type": "PubMed", "id": "21549339", "url": "https://pubmed.ncbi.nlm.nih.gov/21549339" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14653", "url": "https://www.uniprot.org/uniprotkb/O14653" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21549339", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.", "journal": "Movement disorders : official journal of the Movement Disorder Society", "date": "2014-01", "authors": "van Egmond Martje E, Verschuuren-Bemelmans Corien C, Nibbeling Esther A, Elting Jan Willem J, Sival Deborah A, Brouwer Oebele F, de Vries Jeroen J, Kremer Hubertus P, Sinke Richard J, Tijssen Marina A, de Koning Tom J", "reference": { "type": "PubMed", "id": "24458321", "url": "https://pubmed.ncbi.nlm.nih.gov/24458321" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14653", "url": "https://www.uniprot.org/uniprotkb/O14653" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24458321", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of alpha-dystroglycan and muscular dystrophy.", "journal": "Skeletal muscle", "date": "2018", "authors": "Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA", "reference": { "type": "PubMed", "id": "29855340", "url": "https://pubmed.ncbi.nlm.nih.gov/29855340" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z392-1", "protein_name": "Trafficking protein particle complex subunit 11", "gene_name": "TRAPPC11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14653", "url": "https://www.uniprot.org/uniprotkb/O14653" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.29855340", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.", "journal": "European journal of medical genetics", "date": "2021-04", "authors": "Henige Hannah, Kaur Shagun, Pappas Kara", "reference": { "type": "PubMed", "id": "33639315", "url": "https://pubmed.ncbi.nlm.nih.gov/33639315" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14653-1", "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14653", "url": "https://www.uniprot.org/uniprotkb/O14653" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33639315", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] } ]