{ "uniprot_canonical_ac": "P35573-1", "uniprot_ac": "P35573", "uniprot_id": "GDE_HUMAN", "mass": { "chemical_mass": 174764.0, "monoisotopic_mass": 174764.0 }, "refseq": { "ac": "NP_000019", "name": "glycogen debranching enzyme isoform 1", "summary": "This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, "gene_names": [ { "name": "AGL", "type": "recommended", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573" } ] }, { "name": "AGL", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "GDE", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573" } ] } ], "protein_names": [ { "name": "Glycogen debranching enzyme", "type": "recommended", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#names_and_taxonomy" } ] }, { "name": "Dextrin 6-alpha-D-glucosidase", "type": "synonym", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#names_and_taxonomy" } ] }, { "name": "Glycogen debrancher", "type": "synonym", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#names_and_taxonomy" } ] }, { "name": "Oligo-1,4-1,4-glucantransferase", "type": "synonym", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#names_and_taxonomy" } ] }, { "name": "amylo-1, 6-glucosidase, 4-alpha-glucanotransferase", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "glycogen debrancher", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "glycogen debranching enzyme isoform 1", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "glycogen debranching enzyme", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "glycogen debranching protein", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] } ], "function": [ { "annotation": "AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "26975021", "url": "https://glygen.org/publication/PubMed/26975021" } ] }, { "annotation": "Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573#function" } ] }, { "annotation": "Six novel mutations were identified in GSD III patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "31028654", "url": "https://glygen.org/publication/PubMed/31028654" } ] }, { "annotation": "Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "32222031", "url": "https://glygen.org/publication/PubMed/32222031" } ] }, { "annotation": "The study identified 31 novel mutations and extended the mutation spectrum of AGL in Chinese patients with glycogen storage disease type III.", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "26984562", "url": "https://glygen.org/publication/PubMed/26984562" } ] }, { "annotation": "This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "annotation": "This report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene.", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "29794575", "url": "https://glygen.org/publication/PubMed/29794575" } ] } ], "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE 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"description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ] }, { "disease_id": "DOID:5212", "recommended_name": { "id": "DOID:5212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5212", "name": "congenital disorder of glycosylation", "description": "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids." }, "synonyms": [ { "id": "DOID:5212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5212", "name": "carbohydrate-deficient glycoprotein syndrome", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5212" } ] } ], "snv": [ { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" }, { "id": "rs3753494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3753494" }, { "id": "rs3753494", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs3753494" }, { "id": "rs3753494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3753494" }, { "id": "rs3753494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs3753494#frequency_tab" }, { "id": "rs3753494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs3753494" }, { "id": "rs3753494", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs3753494" } ], "glycoeffect": [], "start_pos": 1067, "end_pos": 1067, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 2 filters: patient freq. 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"https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": 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"url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "limit dextrinosis", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD3", "description": "" }, { "id": "MIM:232400", "resource": "MIM", "url": "https://www.omim.org/entry/232400", "name": "Glycogen storage disease 3", "description": "Glycogen storage disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "232400", "database": "MIM", "url": "https://www.omim.org/entry/232400" }, { "id": "2748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2748" } ] } ] }, { "evidence": [ { "id": "rs2100817894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100817894" }, { "id": "rs2100817894", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2100817894" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1124, "end_pos": 1124, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NII->NIS); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99900644", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2100817894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100817894" }, { "id": "rs2100817894", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2100817894" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1124, "end_pos": 1124, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NII->NIT); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99900644", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1124", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous 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"https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate 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"" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", 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{ "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "limit dextrinosis", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD3", "description": "" }, { "id": "MIM:232400", "resource": "MIM", "url": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. 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"https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1418613456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418613456" }, { "id": "rs1418613456", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418613456" } ], "glycoeffect": [], "start_pos": 1286, "end_pos": 1286, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99912424", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1286", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1403995325", "database": "dbSNP", "url": 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"ebi", "germline" ] }, { "evidence": [ { "id": "rs1333279828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333279828" }, { "id": "rs1333279828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333279828" } ], "glycoeffect": [], "start_pos": 1288, "end_pos": 1288, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99912431", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1288", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "limit dextrinosis", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD3", "description": "" }, { "id": "MIM:232400", "resource": "MIM", "url": "https://www.omim.org/entry/232400", "name": "Glycogen storage disease 3", "description": "Glycogen storage disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "232400", "database": "MIM", "url": "https://www.omim.org/entry/232400" }, { "id": "2748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs746030369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746030369" }, { "id": "rs746030369", "database": "ExAC", "url": 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"sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99912433", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1424775377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424775377" }, { "id": "rs1424775377", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1424775377#frequency_tab" } ], "glycoeffect": [], "start_pos": 1289, "end_pos": 1289, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99912434", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2524498845", "database": "dbSNP", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs143815159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143815159" }, { "id": "rs143815159", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143815159" }, { "id": "rs143815159", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143815159" }, { "id": "rs143815159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143815159#frequency_tab" }, { "id": "rs143815159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143815159" } ], "glycoeffect": [], "start_pos": 1444, "end_pos": 1444, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99916481", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1444", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "limit dextrinosis", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD3", "description": "" }, { "id": "MIM:232400", "resource": "MIM", "url": "https://www.omim.org/entry/232400", "name": "Glycogen storage disease 3", "description": "Glycogen storage disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "232400", "database": "MIM", "url": "https://www.omim.org/entry/232400" }, { "id": "2748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" }, { "id": "rs143815159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143815159" }, { "id": "rs143815159", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143815159" }, { "id": "rs143815159", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143815159" }, { "id": "rs143815159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143815159#frequency_tab" }, { "id": "rs143815159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143815159" }, { "id": "rs143815159", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143815159" } ], "glycoeffect": [], "start_pos": 1444, "end_pos": 1444, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "99916481", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N1444", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "limit dextrinosis", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD3", "description": "" }, { "id": "MIM:232400", "resource": "MIM", "url": "https://www.omim.org/entry/232400", "name": "Glycogen storage disease 3", "description": "Glycogen storage disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "232400", "database": "MIM", "url": "https://www.omim.org/entry/232400" }, { "id": "2748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs375100886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375100886" } ], "glycoeffect": [], "start_pos": 1444, "end_pos": 1444, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99916480", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1444", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": 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"https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme 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"https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs369635040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369635040" }, { "id": "rs369635040", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369635040" }, { "id": "rs369635040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369635040" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1445, "end_pos": 1445, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99916485", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" } 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1350055804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350055804" }, { "id": "rs1350055804", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1350055804#frequency_tab" }, { "id": "rs1350055804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350055804" } ], "glycoeffect": [], "start_pos": 291, "end_pos": 291, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99870784", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs555262805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555262805" }, { "id": "rs555262805", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555262805" }, { "id": "rs555262805", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs555262805#frequency_tab" }, { "id": "rs555262805", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555262805" } ], "glycoeffect": [], "start_pos": 291, "end_pos": 291, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99870783", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D291", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme 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"https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" } ], "glycoeffect": [], "start_pos": 291, "end_pos": 291, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "99870782", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D291", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1479978264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479978264" }, { "id": "rs1479978264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479978264" } ], "glycoeffect": [], "start_pos": 291, "end_pos": 291, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99870782", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1272589048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272589048" }, { "id": "rs1272589048", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1272589048#frequency_tab" } ], "glycoeffect": [], "start_pos": 292, "end_pos": 292, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99870785", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I292", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease 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"https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": 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hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. 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It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": 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"https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", 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"https://www.omim.org/entry/232400", "name": "Glycogen storage disease 3", "description": "Glycogen storage disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "232400", "database": "MIM", "url": "https://www.omim.org/entry/232400" }, { "id": "2748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1651360894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651360894" }, { "id": "rs1651360894", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1651360894" } ], "glycoeffect": [], "start_pos": 352, "end_pos": 352, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99874782", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I352", "disease": [ 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"https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" }, { "id": "rs141043166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141043166" }, { "id": "rs141043166", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141043166" }, { "id": "rs141043166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141043166" }, { "id": "rs141043166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141043166#frequency_tab" }, { "id": "rs141043166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141043166" }, { "id": "rs141043166", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141043166" } ], "glycoeffect": [], "start_pos": 494, "end_pos": 494, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "99877698", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R494", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "limit dextrinosis", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD3", "description": "" }, { "id": "MIM:232400", "resource": "MIM", "url": "https://www.omim.org/entry/232400", "name": "Glycogen storage disease 3", "description": "Glycogen storage disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "232400", "database": "MIM", "url": "https://www.omim.org/entry/232400" }, { "id": "2748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" }, { "id": "rs753015481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753015481" }, { "id": "rs753015481", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753015481" }, { "id": "rs753015481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753015481" } ], "glycoeffect": [], "start_pos": 595, "end_pos": 595, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "99880680", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R595", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive 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"https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. 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"https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1321104218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321104218" }, { "id": "rs1321104218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321104218" } ], "glycoeffect": [], "start_pos": 597, "end_pos": 597, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99880686", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G597", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme 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"https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1412793734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412793734" }, { "id": "rs1412793734", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412793734#frequency_tab" } ], "glycoeffect": [], "start_pos": 651, "end_pos": 651, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99881128", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C651", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774114953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774114953" }, { "id": "rs774114953", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774114953#frequency_tab" }, { "id": "rs774114953", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774114953" } ], "glycoeffect": [], "start_pos": 652, "end_pos": 652, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99881132", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C652", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775456630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775456630" }, { "id": "rs775456630", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775456630" }, { "id": "rs775456630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775456630" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 654, "end_pos": 654, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99881136", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1651984153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1651984153" }, { "id": "rs1651984153", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1651984153#frequency_tab" }, { "id": "rs1651984153", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1651984153" } ], "glycoeffect": [], "start_pos": 655, "end_pos": 655, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99881139", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G655", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage 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"name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. 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"https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" } ], "glycoeffect": [], "start_pos": 921, "end_pos": 921, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "99888058", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G921", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs199868334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199868334" }, { "id": "rs199868334", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199868334" }, { "id": "rs199868334", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199868334#frequency_tab" }, { "id": "rs199868334", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199868334" } ], "glycoeffect": [], "start_pos": 921, "end_pos": 921, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99888057", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G921", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "limit dextrinosis", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD3", "description": "" }, { "id": "MIM:232400", "resource": "MIM", "url": "https://www.omim.org/entry/232400", "name": "Glycogen storage disease 3", "description": "Glycogen storage disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "232400", "database": "MIM", "url": "https://www.omim.org/entry/232400" }, { "id": "2748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2748" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs775950341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775950341" }, { "id": "rs775950341", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775950341" }, { "id": "rs775950341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775950341" } ], "glycoeffect": [], "start_pos": 922, "end_pos": 922, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99888061", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C922", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" } ], "glycoeffect": [], "start_pos": 922, "end_pos": 922, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "99888061", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C922", "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 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"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": 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"description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P35573", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 93, "end_pos": 93, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "99861698", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y93", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1398747295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398747295" }, { "id": "rs1398747295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1398747295#frequency_tab" }, { "id": "rs1398747295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398747295" } ], "glycoeffect": [], "start_pos": 940, "end_pos": 940, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99891227", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M940", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2100788224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100788224" }, { "id": "rs2100788224", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2100788224" } ], "glycoeffect": [], "start_pos": 940, "end_pos": 940, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "99891226", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M940", "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", 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new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "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": 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"Enzyme and Pathway" ] }, { "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1C7CYW1", "url": "https://www.uniprot.org/uniprotkb/A0A1C7CYW1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1C7CYW1-1", "url": "https://www.uniprot.org/uniprotkb/A0A1C7CYW1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35573-1", "url": "https://www.uniprot.org/uniprotkb/P35573-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35573-2", "url": "https://www.uniprot.org/uniprotkb/P35573-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35573-3", "url": "https://www.uniprot.org/uniprotkb/P35573-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL", "length": 1532, "header": "sp|P35573-1|GDE_HUMAN Isoform 1 of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=3 CANONICAL=P35573-1" }, "isoforms": [ { "isoform_ac": "A0A1C7CYW1-1", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#A0A1C7CYW1-1", "sequence": { "sequence": "MGHSKQIRILLLNEMEKLEKTLFRLEQETGSHYVAQVDIELLDSSNPPSLASESTGITSISHRAWPQF", "length": 68, "header": "tr|A0A1C7CYW1-1|GDE_HUMAN Computationally mapped isoform of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=1 CANONICAL=P35573-1" }, "locus": { "chromosome": "1", "start_pos": 99852682, "end_pos": 99851043, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361302.7", "url": "https://www.ensembl.org/id/ENST00000361302.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000354971.4", "url": "https://www.ensembl.org/id/ENSP00000354971.4" } ] } }, { "isoform_ac": "P35573-1", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#P35573-1", "sequence": { "sequence": "MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL", "length": 1532, "header": "sp|P35573-1|GDE_HUMAN Isoform 1 of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=3 CANONICAL=P35573-1" }, "locus": { "chromosome": "1", "start_pos": 99921648, "end_pos": 99851043, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000965593.1", "url": "https://www.ensembl.org/id/ENST00000965593.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000635652.1", "url": "https://www.ensembl.org/id/ENSP00000635652.1" } ] } }, { "isoform_ac": "P35573-2", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#P35573-2", "sequence": { "sequence": "MSLLTCAFYLGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL", "length": 1515, "header": "sp|P35573-2|GDE_HUMAN Isoform 2 of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=3 CANONICAL=P35573-1" }, "locus": {} }, { "isoform_ac": "P35573-3", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#P35573-3", "sequence": { "sequence": "MAPILSINLFIGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL", "length": 1516, "header": "sp|P35573-3|GDE_HUMAN Isoform 3 of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=3 CANONICAL=P35573-1" }, "locus": { "chromosome": "1", "start_pos": 99921648, "end_pos": 99852670, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370161.6", "url": "https://www.ensembl.org/id/ENST00000370161.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000359180.2", "url": "https://www.ensembl.org/id/ENSP00000359180.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1130, "start_aa": "Thr", "end_pos": 1130, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1130", "evidence": [ { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "P35573", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "P35573", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P35573" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1474, "start_aa": "Thr", "end_pos": 1474, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1474", "evidence": [ { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "P35573", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "P35573", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P35573" } ] } ], "phosphorylation": [ { "start_pos": 1477, "end_pos": 1477, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "P35573", "url": "https://www.iedb.org/epitope/P35573" }, { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Thr1477" }, { "start_pos": 584, "end_pos": 584, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr584" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" } ], "site_lbl": "Ser64" } ], "glycation": [], "keywords": [ "enzyme", "glycohydrolase-activity", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "1999", "authors": "Brushia RJ, Walsh DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "10487978", "url": "https://glygen.org/publication/PubMed/10487978" } ] }, { "title": "Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.", "journal": "Human mutation", "date": "1999", "authors": "Okubo M, Kanda F, Horinishi A, Takahashi K, Okuda S, Chihara K, Murase T", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" }, { "database": "dbSNP", "id": "rs118203964", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203964" } ], "reference": [ { "type": "PubMed", "id": "10571954", "url": "https://glygen.org/publication/PubMed/10571954" } ] }, { "title": "Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.", "journal": "Molecular genetics and metabolism", "date": "2000-01", "authors": "Shaiu W L, Kishnani P S, Shen J, Liu H M, Chen Y T", "evidence": [ { "database": "dbSNP", "id": "rs113994132", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994132" } ], "reference": [ { "type": "PubMed", "id": "10655153", "url": "https://glygen.org/publication/PubMed/10655153" } ] }, { "title": "Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.", "journal": "American journal of medical genetics", "date": "2000-07-31", "authors": "Okubo M, Horinishi A, Suzuki Y, Murase T, Hayasaka K", "evidence": [ { "database": "dbSNP", "id": "rs387906246", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387906246" } ], "reference": [ { "type": "PubMed", "id": "10925384", "url": "https://glygen.org/publication/PubMed/10925384" } ] }, { "title": "Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core.", "journal": "Molecular cell", "date": "2000", "authors": "Rath VL, Ammirati M, LeMotte PK, Fennell KF, Mansour MN, Danley DE, Hynes TR, Schulte GK, Wasilko DJ, Pandit J", "evidence": [ { 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complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" }, { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "517357", "url": "https://www.iedb.org/epitope/517357" }, { "database": "IEDB", "id": "573198", "url": "https://www.iedb.org/epitope/573198" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "1350392", "url": "https://www.iedb.org/epitope/1350392" }, { "database": "IEDB", "id": "1360576", "url": "https://www.iedb.org/epitope/1360576" }, { "database": "IEDB", "id": "1366943", "url": "https://www.iedb.org/epitope/1366943" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] }, { "title": "Multiplexed relative and absolute quantitative immunopeptidomics reveals MHC I repertoire alterations induced by CDK4/6 inhibition.", "journal": "Nature communications", "date": "2020-06-02", "authors": "Stopfer Lauren E, Mesfin Joshua M, Joughin Brian A, Lauffenburger Douglas A, White Forest M", "evidence": [ { "database": "IEDB", "id": "623929", "url": "https://www.iedb.org/epitope/623929" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "32488085", "url": "https://glygen.org/publication/PubMed/32488085" } ] }, { "title": "Extending the Comprehensiveness of Immunopeptidome Analyses Using Isobaric Peptide Labeling.", "journal": "Analytical chemistry", "date": "2020-07-07", "authors": "Pfammatter Sibylle, Bonneil Eric, Lanoix Joel, Vincent Krystel, Hardy Marie-Pierre, Courcelles Mathieu, Perreault Claude, Thibault Pierre", "evidence": [ { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "1339530", "url": "https://www.iedb.org/epitope/1339530" } ], "reference": [ { "type": "PubMed", "id": "32502341", "url": "https://glygen.org/publication/PubMed/32502341" } ] }, { "title": "Solving an MHC allele-specific bias in the reported immunopeptidome.", "journal": "JCI insight", "date": "2020-10-02", "authors": "Klatt Martin G, Mack Kyeara N, Bai Yang, Aretz Zita E H, Nathan Levy I, Mun Sung Soo, Dao Tao, Scheinberg David A", "evidence": [ { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "2139139", "url": "https://www.iedb.org/epitope/2139139" } ], "reference": [ { "type": "PubMed", "id": "32897882", "url": "https://glygen.org/publication/PubMed/32897882" } ] }, { "title": "Spliced Peptides and Cytokine-Driven Changes in the Immunopeptidome of Melanoma.", "journal": "Cancer immunology research", "date": "2020-10", "authors": "Faridi Pouya, Woods Katherine, Ostrouska Simone, Deceneux Cyril, Aranha Ritchlynn, Duscharla Divya, Wong Stephen Q, Chen Weisan, Ramarathinam Sri H, Lim Kam Sian Terry C C, Croft Nathan P, Li Chen, Ayala Rochelle, Cebon Jonathan S, Purcell Anthony W, Schittenhelm Ralf B, Behren Andreas", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "455600", "url": "https://www.iedb.org/epitope/455600" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "1975773", "url": "https://www.iedb.org/epitope/1975773" }, { "database": "IEDB", "id": "1984048", "url": "https://www.iedb.org/epitope/1984048" }, { 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HLA-II Antigens.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Forlani Greta, Michaux Justine, Pak HuiSong, Huber Florian, Marie Joseph Elodie Lauret, Ramia Elise, Stevenson Brian J, Linnebacher Michael, Accolla Roberto S, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "716396", "url": "https://www.iedb.org/epitope/716396" }, { "database": "IEDB", "id": "1270783", "url": "https://www.iedb.org/epitope/1270783" }, { "database": "IEDB", "id": "1621681", "url": "https://www.iedb.org/epitope/1621681" } ], "reference": [ { "type": "PubMed", "id": "33592498", "url": "https://glygen.org/publication/PubMed/33592498" } ] }, { "title": "Most non-canonical proteins uniquely populate the proteome or immunopeptidome.", "journal": "Cell reports", "date": "2021-03-09", "authors": "Ruiz Cuevas Maria Virginia, Hardy Marie-Pierre, Holl\u00fd Jaroslav, Bonneil \u00c9ric, Durette Chantal, Courcelles Mathieu, Lanoix Jo\u00ebl, C\u00f4t\u00e9 Caroline, Staudt Louis M, Lemieux S\u00e9bastien, Thibault Pierre, Perreault Claude, Yewdell Jonathan W", "evidence": [ { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "33691108", "url": "https://glygen.org/publication/PubMed/33691108" } ] }, { "title": "ERAP2 Increases the Abundance of a Peptide Submotif Highly Selective for the Birdshot Uveitis-Associated HLA-A29.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Venema Wouter J, Hiddingh Sanne, de Boer Joke H, Claas Frans H J, Mulder Arend, den Hollander Anneke I, Stratikos Efstratios, Sarkizova Siranush, van der Veken Lars T, Janssen George M C, van Veelen Peter A, Kuiper Jonas J W", "evidence": [ { "database": "IEDB", "id": "428753", "url": "https://www.iedb.org/epitope/428753" }, { "database": "IEDB", "id": "724617", "url": 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Rochelle, Croft Nathan P, Faridi Pouya, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "847324", "url": "https://www.iedb.org/epitope/847324" }, { "database": "IEDB", "id": "1882101", "url": "https://www.iedb.org/epitope/1882101" }, { "database": "IEDB", "id": "1901447", "url": "https://www.iedb.org/epitope/1901447" }, { "database": "IEDB", "id": "1919310", "url": "https://www.iedb.org/epitope/1919310" }, { "database": "IEDB", "id": "1936478", "url": "https://www.iedb.org/epitope/1936478" } ], "reference": [ { "type": "PubMed", "id": "33968037", "url": "https://glygen.org/publication/PubMed/33968037" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P35573", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Profiling SARS-CoV-2 HLA-I peptidome reveals T\u00a0cell epitopes from out-of-frame ORFs.", "journal": "Cell", "date": "2021-07-22", "authors": "Weingarten-Gabbay Shira, Klaeger Susan, Sarkizova Siranush, Pearlman Leah R, Chen Da-Yuan, Gallagher Kathleen M E, Bauer Matthew R, Taylor Hannah B, Dunn W Augustine, Tarr Christina, Sidney John, Rachimi Suzanna, Conway Hasahn L, Katsis Katelin, Wang Yuntong, Leistritz-Edwards Del, Durkin Melissa R, Tomkins-Tinch Christopher H, Finkel Yaara, Nachshon Aharon, Gentili Matteo, Rivera Keith D, Carulli Isabel P, Chea Vipheaviny A, Chandrashekar Abishek, Bozkus Cansu Cimen, Carrington Mary, , Bhardwaj Nina, Barouch Dan H, Sette Alessandro, Maus Marcela V, Rice Charles M, Clauser Karl R, Keskin Derin B, Pregibon Daniel C, Hacohen Nir, Carr Steven A, Abelin Jennifer G, Saeed Mohsan, Sabeti Pardis C", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "617207", "url": "https://www.iedb.org/epitope/617207" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "1372071", "url": "https://www.iedb.org/epitope/1372071" } ], "reference": [ { "type": "PubMed", "id": "34171305", "url": "https://glygen.org/publication/PubMed/34171305" } ] }, { "title": "Proteogenomic identification of an immunogenic HLA class I neoantigen in mismatch repair-deficient colorectal cancer tissue.", "journal": "JCI insight", "date": "2021-07-22", "authors": "Hirama Tomomi, Tokita Serina, Nakatsugawa Munehide, Murata Kenji, Nannya Yasuhito, Matsuo Kazuhiko, Inoko Hidetoshi, Hirohashi Yoshihiko, Hashimoto Shinichi, Ogawa Seishi, Takemasa Ichiro, Sato Noriyuki, Hata Fumitake, Kanaseki Takayuki, Torigoe Toshihiko", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" } ], "reference": [ { "type": "PubMed", "id": "34185709", "url": "https://glygen.org/publication/PubMed/34185709" } ] }, { "title": "HLA-B and cysteinylated ligands distinguish the antigen presentation landscape of extracellular vesicles.", "journal": "Communications biology", "date": "2021-07-01", "authors": "Bauz\u00e1-Martinez Julia, Heck Albert J R, Wu Wei", "evidence": [ { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" } ], "reference": [ { "type": "PubMed", "id": "34211107", "url": "https://glygen.org/publication/PubMed/34211107" } ] }, { "title": "HLA class II immunopeptidomics reveals that co-inherited HLA-allotypes within an extended haplotype can improve proteome coverage for immunosurveillance.", "journal": "Proteomics", "date": "2021-09", "authors": "Ramarathinam Sri H, Ho Bosco K, Dudek Nadine L, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "847324", "url": "https://www.iedb.org/epitope/847324" }, { "database": "IEDB", "id": "1059029", "url": "https://www.iedb.org/epitope/1059029" }, { "database": "IEDB", "id": "1823000", "url": "https://www.iedb.org/epitope/1823000" }, { "database": "IEDB", "id": "1828066", "url": "https://www.iedb.org/epitope/1828066" }, { "database": "IEDB", "id": "1833696", "url": "https://www.iedb.org/epitope/1833696" }, { "database": "IEDB", "id": "1844136", "url": "https://www.iedb.org/epitope/1844136" } ], "reference": [ { "type": "PubMed", "id": "34357683", "url": "https://glygen.org/publication/PubMed/34357683" } ] }, { "title": "Immunopeptidogenomics: Harnessing RNA-Seq to Illuminate the Dark Immunopeptidome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Scull Katherine E, Pandey Kirti, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "34509645", "url": "https://glygen.org/publication/PubMed/34509645" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P35573", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "HLA Allele-Specific Quantitative Profiling of Type 1 Diabetic B Lymphocyte Immunopeptidome.", "journal": "Journal of proteome research", "date": "2022-01-07", "authors": "Sudhir Putty-Reddy, Lin Tai-Du, Zhang Qibin", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" } ], "reference": [ { "type": "PubMed", "id": "34932366", "url": "https://glygen.org/publication/PubMed/34932366" } ] }, { "title": "Immunopeptidomic analysis of influenza A virus infected human tissues identifies internal proteins as a rich source of HLA ligands.", "journal": "PLoS pathogens", "date": "2022-01", "authors": "Nicholas Ben, Bailey Alistair, Staples Karl J, Wilkinson Tom, Elliott Tim, Skipp Paul", "evidence": [ { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" }, { "database": "IEDB", "id": "617207", "url": "https://www.iedb.org/epitope/617207" }, { "database": "IEDB", "id": "2016339", "url": "https://www.iedb.org/epitope/2016339" }, { "database": "IEDB", "id": "2041248", "url": 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"https://glygen.org/publication/PubMed/35561310" } ] }, { "title": "Soluble HLA peptidome of pleural effusions is a valuable source for tumor antigens.", "journal": "Journal for immunotherapy of cancer", "date": "2022-05", "authors": "Khazan-Kost Sofia, Cafri Gal, Melamed Kadosh Dganit, Mooshayef Navit, Chatterji Sumit, Dominissini Dan, Manor Sigal, Zisser Bracha, Broday Limor, Talalai Efrosiniia, Shemer Anat, Zadok Oranit, Ofek Efrat, Onn Amir, Admon Arie, Peled Michael", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "709025", "url": "https://www.iedb.org/epitope/709025" }, { "database": "IEDB", "id": "716396", "url": "https://www.iedb.org/epitope/716396" } ], "reference": [ { "type": "PubMed", "id": "35580925", "url": "https://glygen.org/publication/PubMed/35580925" } ] }, { "title": "Multi-Omic Analysis of Two Common P53 Mutations: Proteins Regulated by Mutated P53 as Potential Targets for Immunotherapy.", "journal": "Cancers", "date": "2022-08-17", "authors": "Vadakekolathu Jayakumar, Boocock David J, Pandey Kirti, Guinn Barbara-Ann, Legrand Antoine, Miles Amanda K, Coveney Clare, Ayala Rochelle, Purcell Anthony W, McArdle Stephanie E", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "444084", "url": "https://www.iedb.org/epitope/444084" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "725396", "url": "https://www.iedb.org/epitope/725396" }, { "database": "IEDB", "id": "895107", "url": "https://www.iedb.org/epitope/895107" }, { "database": "IEDB", "id": "1023185", "url": "https://www.iedb.org/epitope/1023185" }, { "database": "IEDB", "id": "2139370", 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"https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "36215666", "url": "https://glygen.org/publication/PubMed/36215666" } ] }, { "title": "Immunopeptidomics-based design of mRNA vaccine formulations against Listeria monocytogenes.", "journal": "Nature communications", "date": "2022-10-14", "authors": "Mayer Rupert L, Verbeke Rein, Asselman Caroline, Aernout Ilke, Gul Adillah, Eggermont Denzel, Boucher Katie, Thery Fabien, Maia Teresa M, Demol Hans, Gabriels Ralf, Martens Lennart, B\u00e9cavin Christophe, De Smedt Stefaan C, Vandekerckhove Bart, Lentacker Ine, Impens Francis", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "633603", "url": "https://www.iedb.org/epitope/633603" }, { "database": "IEDB", "id": "2141808", "url": "https://www.iedb.org/epitope/2141808" }, { "database": "IEDB", "id": "2245743", "url": "https://www.iedb.org/epitope/2245743" }, { "database": "IEDB", "id": "2247880", "url": "https://www.iedb.org/epitope/2247880" } ], "reference": [ { "type": "PubMed", "id": "36241641", "url": "https://glygen.org/publication/PubMed/36241641" } ] }, { "title": "Retina-arrestin specific CD8+ T cells are not implicated in HLA-A29-positive birdshot chorioretinitis.", "journal": "Clinical immunology (Orlando, Fla.)", "date": "2023-02", "authors": "Venema W J, Hiddingh S, Janssen G M C, Ossewaarde-van Norel J, van Loon N Dam, de Boer J H, van Veelen P A, Kuiper J J W", "evidence": [ { "database": "IEDB", "id": "428753", "url": "https://www.iedb.org/epitope/428753" } ], "reference": [ { "type": "PubMed", "id": "36581221", "url": "https://glygen.org/publication/PubMed/36581221" } ] }, { "title": "Targeting of intracellular oncoproteins with peptide-centric CARs.", "journal": "Nature", "date": "2023-11", "authors": "Yarmarkovich Mark, Marshall Quinlen F, Warrington John M, Premaratne Rasika, Farrel Alvin, Groff David, Li Wei, di Marco Moreno, Runbeck Erin, Truong Hau, Toor Jugmohit S, Tripathi Sarvind, Nguyen Son, Shen Helena, Noel Tiffany, Church Nicole L, Weiner Amber, Kendsersky Nathan, Martinez Dan, Weisberg Rebecca, Christie Molly, Eisenlohr Laurence, Bosse Kristopher R, Dimitrov Dimiter S, Stevanovic Stefan, Sgourakis Nikolaos G, Kiefel Ben R, Maris John M", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" } ], "reference": [ { "type": "PubMed", "id": "37938771", "url": "https://glygen.org/publication/PubMed/37938771" } ] }, { "title": "A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3.", "journal": "European journal of biochemistry", "date": "1974", "authors": "Quick CB, Fisher RA, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "4829444", "url": "https://glygen.org/publication/PubMed/4829444" } ] }, { "title": "Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease.", "journal": "Biochemistry", "date": "1970", "authors": "Brown BI, Brown DH, Jeffrey PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5264799", "url": "https://glygen.org/publication/PubMed/5264799" } ] }, { "title": "Correlation between subunit interactions and enzymatic activity of phosphorylase a. Method for determining equilibrium constants from initial rate measurements.", "journal": "Biochemistry", "date": "1970", "authors": "Huang CY, Graves DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5461220", "url": "https://glygen.org/publication/PubMed/5461220" } ] }, { "title": "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.", "journal": "American journal of human genetics", "date": "1995", "authors": "van den Berg IE, van Beurden EA, Malingre HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7847371", "url": "https://glygen.org/publication/PubMed/7847371" } ] }, { "title": "The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "March RE, Putt W, Hollyoake M, Ives JH, Lovegrove JU, Hopkinson DA, Edwards YH, Whitehouse DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7902568", "url": "https://glygen.org/publication/PubMed/7902568" } ] }, { "title": "Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Wisselaar HA, Kroos MA, Hermans MM, van Beeumen J, Reuser AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "8420990", "url": "https://glygen.org/publication/PubMed/8420990" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.", "journal": "The Journal of clinical investigation", "date": "1996", "authors": "Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" }, { "database": "dbSNP", "id": "rs113994127", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994127" }, { "database": "dbSNP", "id": "rs113994126", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994126" }, { "database": "dbSNP", "id": "rs113994129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994129" } ], "reference": [ { "type": "PubMed", "id": "8755644", "url": "https://glygen.org/publication/PubMed/8755644" } ] }, { "title": "Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.", "journal": "Nature genetics", "date": "1996", "authors": "Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": 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"evidence": [ { "database": "dbSNP", "id": "rs113994134", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994134" } ], "reference": [ { "type": "PubMed", "id": "9412782", "url": "https://glygen.org/publication/PubMed/9412782" } ] }, { "title": "Purification and some properties of a hepatic NADPH-dependent reductase that specifically acts on 1,5-anhydro-D-fructose.", "journal": "Journal of biochemistry", "date": "1998-01", "authors": "Sakuma M, Kametani S, Akanuma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9504428", "url": "https://glygen.org/publication/PubMed/9504428" } ] }, { "title": "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.", "journal": "The Journal of clinical investigation", "date": "1998", "authors": "Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9691087", "url": "https://glygen.org/publication/PubMed/9691087" } ] } ], "pathway": [ { "id": "hsa:178", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:178", "resource": "KEGG Pathway" }, { "id": "R-HSA-6798695", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-70221", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "resource": "Reactome", "description": "Glycogen breakdown (glycogenolysis)" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8M2BAR0-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "agla", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MTAKQTRVMVLNDMEKLDRTLFRLDQGFELQFRLGPTLQGKHVRVYTNYPTEGERFDRQKFHALDWINPTAREDDSDKFCTLDLKISGSYQYYFGHGGDEKSGGGYIVVDPVLRVGADNHVLPLDCITIQTYLSKCLGPLDEWSDRLRVAKEAGYNMIHFTPLQTLGESRSCYSLADQLELNPDFSPSGQTYTWTDAGNLVEKLKNEWNMLCITDVVYNHTASNSKWIKKHPECGYNLVNSPHLKPAWVLDRALWHVTCAIADGKYEDRGLPALIQDHPHLHAIRGVLWQEVFPKIKLWEFFQVKIEALVEQFRALLQSGAKPDSSKTDGKKQLKIIQDPQYRRFGNTVDMNTALELFVPNGNSPGAIEDCCNWLRRKLEELNGEQFHEVKHHQEQATNCIDGTVSYERLADHGPKLGPITRKHPLVTRYFTFPFEETTLEQDLELINQPEKSCHFLAHNGWVMGDDPLRNFAEPGSNVYIRRELICWGDSVKLRYGSGPEDCPYLWAHMQKYTEITAKHFVGVRLDNCHSTPLHVAEAMLAAARSVRPNLYVIAELFTGSELIDNVFVNRLGITSLIREAMSAGDSHEEGRLVYRYGGEPVGAFLQPSLRPLVPSIAHAMFLDVTHDNECPIQIRSVYDSLPSSAIVSMACCATGSTRGYDELVPHQISVVSEERFYTKWSSQAKPSSPNEVNLQTGIIAGKLALNRLHQELAAKGFSQVFVDQVDEDIVAVTRHCPSTHQSVVAVCRTAFKNPKHHRYTDEVPPMCIPGKIEEVVLEARTVERQTGTYKKDERSINGMPEYTVEIKEHIQLADSKVVRQAGVTSRGRSEYVQEIVFEKLTPGSVIAFRVSLDPKSQELVGVLRNHLIQFNPLYKAGSVPDSNTPDILKSPLTQIMSKLTLADMNLLLFRCDSEEKEDGGGCYNIPGWTPLKYGGLQGLLSVMAEIRPKNDLGHPFCDNLRQGDWMIDYVSNRLVSRGGPLAEVGQWFQAMFAYLKHIPRYLIPCYFDAILVGAFTTALDATFRQMSSFVQDGSSFVKLLALGSVQMCGVGRFPALPPLSPALSDVPYRVNEITKEKEQCCVSMAAGLPHFSAGIFRCWGRDTFIALRGLLLVTGRHLEARNIILAFAGTLRHGLIPNLLGEGVGARFNCRDAVWWWLQCIQDYCTMVPNGTDILQCPVSRMYPTDDSKPLTAGTVDQLLYEVIHEAMERHIQGIEFRESNAGPQIDRNMRDEGFNIEAKVNPDTGFVYGGNRFNCGTWMDKMGESERARNKGIPATPRDGSAVEIVGLCKSTLRWLVELHKKGLFPYNTVKIQRDGKQLSVAYDEWEMKIQKNFEKMFYVSHDPNDPNEKHPELVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTVEHAWKALNMAEEKLLGPLGMKTLDPDDMVYCGVYDNSLDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKIFFAKKMGKDTYDKTVYLVKNVLSRHNVHMERSSWKGLPELTNENGQYCSFSCETQAWSLAAVLEVLHDL", "length": 1533 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A8V0ZQ64-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "AGL", "tax_id": 9031, "organism": 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"length": 1530 }, "evidence": [ { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "A0AB32THB4-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "aglb", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MRSLSDVAARTAGDPDATFPVFKGHPKKSTASMFRGKQTRVLLLNDMESMERTLFRLEQGFELQFRLGPTLQGKSVHVHTNYPALYKKFVASSFRQLEWENPSGREDDSDKYCKLDLEIAGSYQYYFGCGNEQKTGGGYIIVDPVLRVGHERKILPLDCITVQTYLAKCLGPLDEWLDRLKVARETGYNMIHFTPLQKLGMSKSCYSIADQLELNPDFSPPGKNYTWMDVGNLTEKLKKEWNMICITDVVYNHTAANSKWIRLHPECGYNLVNSPHLKPAWLLDRALWHFSCAIADGKYSDGGLPPLIENEKHITILKGLLWTEVFTHLKLWEFLQVNVEKAVEQFRKVLQAGNKPVGPELEGKPKLKVIQDSQFRRLSNTVDMQLALEMFGRHTNGPKSIEECCDWFKKSLEELNVECYKEMHSHHEKAIDCIVGTVCYERIAAHGPQLGPVTQTNPLVLRYFTFPFEDMTMEQESQLMQDPNNACHLLAHNGWVMGDDPLRNFAEAGSTVYLRRELVCWGDSVKLRYGDKPEDCPYLWAHMKKYTEITAKHFSGVRLDNCHSTPLHVAEYILAVARQHRPDLYVVAELFTGSEELDNVFMTRLGITSLIREAMSAGDSHEEGRLVYRFGGEPVGSFIQPNLRPLEPSIAHAMFLDVTHDNECPIQVRSAYDALPSSAIVSMACCASGSTRGYDELVPHQISVVKEERLYPKWNPDALPSSGREVNLHSGITAGKLALNKLHQELAENGFTQVYVDQLDEDTVAVTRHCPSTHQSVVTVCRTAFKDPKTHQFRESLAPMYIPGKIEEVILEARTVERSAESYVKDETFINGLPNYTVEIREHIQLKESQIVKQGDATTKGRSEFVEEILFEKLTPGSVIAFRVSLDPNSQKMVGYLRTQLSQFNRLFKSGSLTDSNVAGILKISLEFLISKLTLAELNVLLFRCDAEEQEDGGGCYNIPSWMPLKYGGLQGFVSVLSEIRPKNDLGHPFCDNLRQGNWILDYVSTRLINKGGALREVGKWFKAVFSYLKHLPRYLVPCYFDAIIVGAYATAVDAVFNQMSSFVLNGSTLVKQLALGSVQMCGVGRVPALPHLSPELEDVPVRVNSATKQEEQCCVSIAAGLPHFSTGIFRCWGRDTFIALRGLMLLTGRHLEARDIILAFAGTMRHGLIPNLLGQGVAARYNCRDAVWWWLQCIQDYCTIVPSGTDILMCPVSRMYPTDDSEAQALGTVAHDQPLYVLIQEAMQRHMQGIQFRERNAGPQIDWNMQHEGFNVEAKVNPETGFVYGGNGFNCGTWMDKMGESDKAHNKGVPATPRDGSAVEIVGLSKSAVRWLMMMNETGHFPYSSVKIHRDGAEQLITYKEWNQRIQENFERFFYVSDDPADPNEQRPDLVHKKCIYKDSHGASSPWCDYQLRPNFTIAMVVAPELFSVQRAWKALEIVETKLLGPLGMKTLDPDDLVYCGVYDNALDNDDYNRAKGFNYHQGPEWIWLVGYFLRAKLYFGRKMGQEKYNQSVYLVKNVLSRLHTHLERSPWKGLPELTNENGQYCPFSCETQAWSIATVLEALFDL", "length": 1568 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "D4AEH9-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "Agl", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEHSKQIRILLLNEMEKLEKTLFRLEQGFELQFRLGPTLQGKAVTVYTNYPFPGEAFNREKFRSLDWENPTEREDDSDKYCKVHLQQSGSFQYYFLQGQEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQALGLSRSCYSLADQLELNPDFSRPNRRYTWDDVGQLVEKLKREWNILCITDVVYNHTAANSKWIHEHPESAYNLVNSPHLKPAWVLDRALWHLSCDVADGKYREKGVPALIENDHHMNCIRKIIWEDIFPRIQLWEFFQVDVQKAVEQFRRLLSQENRRVTKSEPKEHLKIIQDPEFRRLGCAVDMNIALATFIPHDNGPAAIEECCNWFRKRLEELNSEKHHLTSCHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKYPLVTRYFTFPFEEMALSAEESLLHRPDKACFLMAHNGWVMGDDPLRNFAEPGSNVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATHFQGVRLDNCHSTPLHVAEYMLDAARKLQPNLYVVAELFTGSEDLDNIFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTVVSMACCASGSTRGYDELVPHQISVVAEERFYTKWNPGASPSDTGDVSIHSGIIAARCAINRLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGMPNMTVELRERIQLHESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSSHFKSGSLAVDNSDPILKIPFASIASKLTLAELNQVLYRCESEEQEDGGGCYDIPNWSSLKYAGLQGLMSVLAEIRPKNDLGHPFCENLRSGDWMIDYVSGRLISRSGSIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDVAWKQMSSFVQNGSTFVKHLSLGSVQMCGVGKCPCLPLLSPSLLDVPCRLNEITKEKEQCCASLAAGLPHFSSGLFRCWGRDTFIALRGMLLVTGRYLEARNIILAFACTLRHGLIPNLLGEGTYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQRHMQGIQFRERNAGPQIDRNMKDEGFNITVGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLCKSAVRWLLELSKKNIFPYHEVRVRRHGKVVAVSYDEWNRKIQNSFEKLFHVSEDPSDPNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTAEKAWKALEIAEGKLLGPLGMKTLDPDDMVYCGVYDNALDNDNYNLARGFNYHQGPEWLWPIGYFLRAKLYFSKMMGPETAAKTVFLVKNVLSRHYVHLERSPWKGLPELTNENGQYCPFSCETQAWSMAAVLETLYDL", "length": 1532 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "F8VPN4-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "Agl", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEHSKQIRILLLNEMEKLEKTLFRLEQGFELQFRLGPTLQGKAVTVYTNYPLPGEAFNREKFRSLDWENPTEREDDSDKYCKLHLQQSGSFQYYFLQGNEKSGGGYIVVDPILRIGVDNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLADQLELNPDFSRPSKRYTWSDVGQLVEKLKREWNILCITDVVYNHTATNSKWILEHPESAYNLVNSPHLKPAWVLDRALWHFSCDVADGKYREKGVPALIENDQHMNCIRKIIWEDIFPRIQLWEFFQVDVHKAVEQFRRLLSQENRRVTKSEPKEHLKIIQDPEYRRRGCAVDMDTALATFIPHDNGPAAIEECCNWFRKRLEELNSEKHHLTSCHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKYPLVTRYFTFPFGEMALSAEEALIHLPDKACFLMAHNGWVMGDDPLRNFAEPGSDVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATHFQGVRLDNCHSTPLHVAEYMLDAARKLQPNLYVVAELFTGSEELDNIFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTVVSMACCASGSTRGYDELVPHQISVVAEERFYTKWNPGASPADTGDVNVHSGIIAARCAINRLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYKKDENSINGMPNMTVELREHIQLHESKIVRQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSSHFKSGSLAVDNADPILKIPFASIASKLTLAELNQVLYRCESEEQEDGGGCYDIPNWSSLKYAGLQGLMSVLAEIRPKNDLGHPFCENLRSGDWMIDYVSGRLISRSGSIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDVAWKQMSSFVQNGSTFVKHLSLGSVQMCGVGKCPCLPLLSPSLLDVPCRLNEITKEKEQCCASLAAGLPHFSSGLFRCWGRDTFIALRGMLLVTGRYLEARNIILAFASTLRHGLIPNLLGEGTYARYNCRDAVWWWLQCIQDYCRTVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQRHMQGIQFRERNAGPQIDRNMKDEGFNITAGIDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLCKSAVRWLLELSKKNIFPYHEVRVKRHGKVVAVSYDEWNRKIQNNFEKLFHVSEDPSDPNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTAEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGVYDNALDNDNYNLARGFNYHQGPEWLWPIGYFLRAKLYFSKMMGPETAAKTVFLVKNVLSRHYVHLERSPWKGLPELTNENGQYCPFSCETQAWSMAVVLETLYDL", "length": 1532 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q06625-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "GDB1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MNRSLLLRLSDTGEPITSCSYGKGVLTLPPIPLPKDAPKDQPLYTVKLLVSAGSPVARDGLVWTNCPPDHNTPFKRDKFYKKIIHSSFHEDDCIDLNVYAPGSYCFYLSFRNDNEKLETTRKYYFVALPMLYINDQFLPLNSIALQSVVSKWLGSDWEPILSKIAAKNYNMVHFTPLQERGESNSPYSIYDQLQFDQEHFKSPEDVKNLVEHIHRDLNMLSLTDIVFNHTANNSPWLVEHPEAGYNHITAPHLISAIELDQELLNFSRNLKSWGYPTELKNIEDLFKIMDGIKVHVLGSLKLWEYYAVNVQTALRDIKAHWNDESNESYSFPENIKDISSDFVKLASFVKDNVTEPNFGTLGERNSNRINVPKFIQLLKLINDGGSDDSESSLATAQNILNEVNLPLYREYDDDVSEILEQLFNRIKYLRLDDGGPKQGPVTVDVPLTEPYFTRFKGKDGTDYALANNGWIWNGNPLVDFASQNSRAYLRREVIVWGDCVKLRYGKSPEDSPYLWERMSKYIEMNAKIFDGFRIDNCHSTPIHVGEYFLDLARKYNPNLYVVAELFSGSETLDCLFVERLGISSLIREAMQAWSEEELSRLVHKHGGRPIGSYKFVPMDDFSYPADINLNEEHCFNDSNDNSIRCVSEIMIPKILTATPPHALFMDCTHDNETPFEKRTVEDTLPNAALVALCSSAIGSVYGYDEIFPHLLNLVTEKRHYDISTPTGSPSIGITKVKATLNSIRTSIGEKAYDIEDSEMHVHHQGQYITFHRMDVKSGKGWYLIARMKFSDNDDPNETLPPVVLNQSTCSLRFSYALERVGDEIPNDDKFIKGIPTKLKELEGFDISYDDSKKISTIKLPNEFPQGSIAIFETQQNGVDESLDHFIRSGALKATSSLTLESINSVLYRSEPEEYDVSAGEGGAYIIPNFGKPVYCGLQGWVSVLRKIVFYNDLAHPLSANLRNGHWALDYTISRLNYYSDEAGINEVQNWLRSRFDRVKKLPSYLVPSYFALIIGILYGCCRLKAIQLMSRNIGKSTLFVQSLSMTSIQMVSRMKSTSILPGENVPSMAAGLPHFSVNYMRCWGRDVFISLRGMLLTTGRFDEAKAHILAFAKTLKHGLIPNLLDAGRNPRYNARDAAWFFLQAVQDYVYIVPDGEKILQEQVTRRFPLDDTYIPVDDPRAFSYSSTLEEIIYEILSRHAKGIKFREANAGPNLDRVMTDKGFNVEIHVDWSTGLIHGGSQYNCGTWMDKMGESEKAGSVGIPGTPRDGAAIEINGLLKSALRFVIELKNKGLFKFSDVETQDGGRIDFTEWNQLLQDNFEKRYYVPEDPSQDADYDVSAKLGVNRRGIYRDLYKSGKPYEDYQLRPNFAIAMTVAPELFVPEHAIKAITIADEVLRGPVGMRTLDPSDYNYRPYYNNGEDSDDFATSKGRNYHQGPEWVWLYGYFLRAFHHFHFKTSPRCQNAAKEKPSSYLYQQLYYRLKGHRKWIFESVWAGLTELTNKDGEVCNDSSPTQAWSSACLLDLFYDLWDAYEDDS", "length": 1536 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Yeast", "common_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q54K94-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "agl", "tax_id": 44689, "organism": "Dictyostelium discoideum", "sequence": { "sequence": "MRISNNNSESGNCGVEYTKLIDSFSEKIRIKDHCVNISTNTSTETKNNNSNINQDIYTITLVGNGSEPPFNAKGLVLPSLGTLRIIIPAGLEVASYNPQIYTNYHHGTDPTSSFQRDKFYIFHKGNIIGYNGNNDLIFEQKIEKYGCFDYYVEWEEVASKNVKCGQIGTFQINPMLKINQQVIPSESICLQTFLTKCMGSIDQWEKHIETASKLGFNMIHYTPVQEIGESGSSYSIYDQQSISSKIFEGGMNRKIINEDEKLLALSSFISDAEKKYGVLGMIDLVWNHTANNSAWLNQHPEAGYNTDNSPHLKSAVQLDQALQDYGKTLYGKEINNIDQLNDVINDVKTKVLPPLKLWEYYVLDIEKEVEIFKNTFFSSGRVKEQIPSSCSTFSPSFLKNIISNPNHEKHEQIKSISKNGIIRAPSYERYSLHINLDYTYKVLDTSVTFSNNSSPEEQIQKYRDILSIVNLEIYKDFDHDTEAILKNIFERIKYERVSDHGPKLGKITKSKPLLTSYFTIVQYRDPNNSSIREIPLANNGWIFNHNPTVDFASSESRAYLRRDVIVWGDCVKMRYGQSPSDNQWLWNHMKTYTQNMARIFHAIRIDNCHSTPIHLAQYLLDAAREIRPDIYITCELFTGSEEIDYFFVKKLGINSLIREAMQCGDSSEFTRVLYRYGGRPIGSIQEPPIGEYLNGCCSRNLGGGIISPNDYASKSLKPSLPPALFMDCTHDNETPHQKRTIADTLSNAAIVAMSACAIGSTRGYDEIFPKTIDLVNETRVYNTNVNLSSGILPIRSLLSKIHLELSCNGFDEIHIHQDGNLIFIQRYSPKLNESIFMVAHCSFSNQQQQQQQDNDKELHVPCKISQFLFGAKITNTHINRNDWNTNTTKLNGIEVDCEIHYHDKVLNQFCQIHEYNNENGALCTTLKLNNFKAGSILFFRGEIPKPNIESIRKIEQLILDENNQLCKSFDNVDLIDMNVLLFRINEEEKQVIGHGAYHVQNPVGELSFCGLQGFVTELNQIAKHNDLGNQLCGNLRKGNWAIDYIVNRLDQRVALKSVKQWLTQCFDQLKQLPRHLIPMYFYQIIMTTYRFATNKSIEKMGNSFVKESDSWFSRALALTSIQFFGVSTPLISNPNVLEGVKDREASLAAGFPHFATGYMRSWGRDTFISLRGILLVTNRYREAINIIVGFGSCLRFGLIPNLLDCGTKPRFNSRDSVWWYLRSIQDTYNCLPTEKEKDQFLNQTKVYRLFPPTNYISPISTIAEIIQEILQAHASGIHFREPNAGREIDDRMRDEGFNISIDLNLTNGFLYGGNRSNCGTWMDKMGESTKANNYGEPATPRDGAPIEITAMLYSTLSWISDLYKLDKFKHGGVEILKSKDNNDNNNNNNSKTDILTYQDWSKLIETNFEKYYYVPSSGDDKKYIINSNYVHRRFIYKDVVGSANVFSDYQLRPNICVAMSFAPKLFNDQHANKCIDIIRNSLVGPIGMKTLDPNDPNYHGNYDNSSDSGYKPTSRGFNYHNGPEWVWCYGFFLESIVQFKQFPSISTKNHLINSLLIKHKLYIQNDKRFSLPELTNREGSFCKDSCDSQAWSIATILASPYQLSITKN", "length": 1608 }, "evidence": [ { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Cellular slime mold", "common_name": "Social amoeba" }, { "uniprot_canonical_ac": "Q9W2H8-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "Agl", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MRYQLFRWLYGLIATVDNEPLPLQIKSEEEAFGENKKKKQLASLENAISPGKLDSVAIRTVPSANANAMGNAGSAEIVSNQIIRRREMSTMGKETESHSIPISEGQDAEHILYRLKRGSKLSVHPDASLLGRKIVLYTNYPAEGQKFVRTEYRVLGWQLSNGKQITSVMHPEAHVVDTDIRSQVELNMSGTYHFYFRYLERPDTGCSGADGALYVQVEPTLHVGPPGAQKTIPLDSVRCQTVLAKLLGPLDTWEPKLRVAKEAGYNVIHFTPIQELGGSRSCYSLRDQLKVNSHFAPQKGGKISFEDVEKVIKKCRQEWGVASICDIVLNHTANESDWLLQHPDATYSCATCPYLRPAFLLDATFAQCGADIAEGSLEHVGVPAVIEQECHLEALKYQLHTSYMSKVNIHELYQCDVMKYVNEFMSQVRTREPPKNVANECRFQEIQLIQDPQYRRLASTINFELALEIFNAFHGDCFDEESRFRKCAETLRRHLDALNDRVRCEVQGYINYAIDNVLAGVRYERVQGDGPRVKEISEKHSVFMVYFTHTGTQGKSLTEIEADMYTKAGEFFMAHNGWVMGYSDPLRDFAEEQPGRANVYLKRELISWGDSVKLRFGRRPEDSPYLWQHMTEYVQTTARIFDGVRLDNCHSTPLHVAEYLLDAARKINPELYVVAELFTNSDYTDNVFVNRLGITSLIREALSAWDSHEQGRLVYRYGGVPVGGFQANSSRHEATSVAHALFLDLTHDNPSPVEKRSVYDLLPSAALVSMACCATGSNRGYDELVPHHIHVVDEERTYQEWGKGVDSKSGIMGAKRALNLLHGQLAEEGFSQVYVDQMDPNVVAVTRHSPITHQSVILVAHTAFGYPSPNAGPTGIRPLRFEGVLDEIILEASLTMQSDKPFDRPAPFKKDPNVINGFTQFQLNLQEHIPLAKSTVFQTQAYSDGNNTELNFANLRPGTVVAIRVSMHPGPRTSFDKLQKISAALRIGSGEEYSQLQAIVSKLDLVALSGALFSCDDEERDLGKGGTAYDIPNFGKIVYCGLQGFISLLTEISPKNDLGHPLCNNLRDGNWMMDYISDRLTSYEDLKPLSAWFKATFEPLKNIPRYLIPCYFDAIVSGVYNVLINQVNELMPDFIKNGHSFPQSLALSTLQFLSVCKSANLPGFSPALSPPKPPKQCVTLSAGLPHFSTGYMRCWGRDTFIALRGSMFLTGRYNEARFIIIGFGQTLRHGLIPNLLDSGSKPRFNCRDAIWWWMYCIKQYVEDAPKGAEILKDKVSRIFPYDDADAHAPGAFDQLLFDVMQEALQVHFQGLQYRERNAGYEIDAHMVDQGFNNQIGIHPETGFVFGGNNFNCGTWMDKMGSSQKAGNKGRPSTPRDGSAVELVGLQYAVLRFMQSLAEKEVIPYTGVERKGPSGEVTKWSYKEWADRIKNNFDKYFFVSESETCSVANKKLIYKDSYGATQSWTDYQLRCNFPITLTVAPDLCNPQNAWRALERAKKYLLGPLGMKTMDPEDWNYRANYDNSNDSTDCTVAHGANYHQGPEWVWPIGFYLRARLIFAKKCGHLDETIAETWAILRAHLRELQTSHWRGLPELTNDNGSYCGDSCRTQAWSVAAILEVLYDLHSLGADVA", "length": 1629 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" } ], 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