{ "uniprot_canonical_ac": "P04062-1", "uniprot_ac": "P04062", "uniprot_id": "GBA1_HUMAN", "mass": { "chemical_mass": 59716.0, "monoisotopic_mass": 59716.0 }, "refseq": { "ac": "NP_000148", "name": "lysosomal acid glucosylceramidase isoform 1 precursor", "summary": "This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148" }, "gene_names": [ { "name": "GBA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04062", "id": "P04062" }, { "name": "GBA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148", "id": "NP_000148" }, { "name": "GBA; GCB; GLUC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148", "id": "NP_000148" }, { "name": "GBA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04062", "id": "P04062" }, { "name": "GC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04062", "id": "P04062" }, { "name": "GLUC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04062", "id": "P04062" } ], "protein_names": [ { "name": "Lysosomal acid glucosylceramidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04062" }, { "name": "2.4.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "3.2.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "3.2.1.45", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "3.2.1.46", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Acid beta-glucosidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Alglucerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Beta-GC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Beta-glucocerebrosidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Beta-glucosylceramidase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Cholesterol glucosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Cholesteryl-beta-glucosidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "D-glucosyl-N-acylsphingosine glucohydrolase; glucosidase, beta, acid; lysosomal glucocerebrosidase; imiglucerase; alglucerase; beta-glucocerebrosidase; beta-GC; acid beta-glucosidase; glucosylceramidase-like protein; SGTase; lysosomal acid GCase; cholesteryl-beta-glucosidase; cholesterol glucosyltransferase; lysosomal acid glucosylceramidase; lysosomal glycosylceramidase; lysosomal galactosylceramidase; lysosomal cholesterol glycosyltransferase; beta-glucosylceramidase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148", "id": "NP_000148" }, { "name": "D-glucosyl-N-acylsphingosine glucohydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Glucosylceramidase beta 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Imiglucerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Lysosomal acid GCase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Lysosomal cholesterol glycosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Lysosomal galactosylceramidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "Lysosomal glycosylceramidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "SGTase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04062" }, { "name": "lysosomal acid glucosylceramidase isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148", "id": "NP_000148" } ], "function": [ { "annotation": "Cognitive Effects of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease with GBA1 Pathogenic Variants.", "evidence": [ { "database": "RefSeq", "id": "NP_000148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148" }, { "database": "PubMed", "id": "37916476", "url": "https://glygen.org/publication/PubMed/37916476" } ] }, { "annotation": "Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose (PubMed:9201993, PubMed:24211208, PubMed:15916907, PubMed:32144204). Plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Catalyzes the glucosylation of cholesterol, through a transglucosylation reaction where glucose is transferred from GlcCer to cholesterol (PubMed:24211208, PubMed:26724485, PubMed:32144204). GlcCer containing mono-unsaturated fatty acids (such as beta-D-glucosyl-N-(9Z-octadecenoyl)-sphing-4-enine) are preferred as glucose donors for cholesterol glucosylation when compared with GlcCer containing same chain length of saturated fatty acids (such as beta-D-glucosyl-N-octadecanoyl-sphing-4-enine) (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl 3-beta-D-glucoside to ceramide (PubMed:26724485) (Probable). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol (PubMed:24211208, PubMed:26724485). Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the transfer of galactose between GalCers and cholesterol in vitro, but with lower activity than with GlcCers (PubMed:32144204). Contrary to GlcCer and GalCer, xylosylceramide/XylCer (such as beta-D-xyosyl-(1<->1')-N-acylsphing-4-enine) is not a good substrate for hydrolysis, however it is a good xylose donor for transxylosylation activity to form cholesteryl 3-beta-D-xyloside (PubMed:33361282).", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062#function" }, { "database": "PubMed", "id": "27378698", "url": "https://glygen.org/publication/PubMed/27378698" }, { "database": "PubMed", "id": "32144204", "url": "https://glygen.org/publication/PubMed/32144204" }, { "database": "PubMed", "id": "15916907", "url": "https://glygen.org/publication/PubMed/15916907" }, { "database": "PubMed", "id": "33361282", "url": "https://glygen.org/publication/PubMed/33361282" }, { "database": "PubMed", "id": "9201993", "url": "https://glygen.org/publication/PubMed/9201993" }, { "database": "PubMed", "id": "26724485", "url": "https://glygen.org/publication/PubMed/26724485" }, { "database": "PubMed", "id": "24211208", "url": "https://glygen.org/publication/PubMed/24211208" }, { "database": "PubMed", "id": "19279011", "url": "https://glygen.org/publication/PubMed/19279011" } ] }, { "annotation": "IPSC-Derived Astrocytes Contribute to In Vitro Modeling of Parkinson's Disease Caused by the GBA1 N370S Mutation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148" }, { "database": "PubMed", "id": "38203497", "url": "https://glygen.org/publication/PubMed/38203497" } ] }, { "annotation": "Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.", "evidence": [ { "database": "RefSeq", "id": "NP_000148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148" }, { "database": "PubMed", "id": "37633302", "url": "https://glygen.org/publication/PubMed/37633302" } ] }, { "annotation": "Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.", "evidence": [ { "database": "RefSeq", "id": "NP_000148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148" }, { "database": "PubMed", "id": "37926171", "url": "https://glygen.org/publication/PubMed/37926171" } ] }, { "annotation": "This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148" } ] } ], "disease": [ { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "168600", "database": "MIM", "url": "https://www.omim.org/entry/168600" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "GD I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": 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disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": 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"MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "GD I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "GD II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs74731340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs74731340" }, { "id": "rs74731340", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs74731340" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 310, "end_pos": 310, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "1", "chr_pos": "155237411", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S310", "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "GD I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gd 1", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). 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"description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type 2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gd 2", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "GD III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04062" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 423, "end_pos": 423, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "1", "chr_pos": "155235802", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A423", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "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": 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hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04062", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04062" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04062", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04062" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04062", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04062" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04062" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P04062", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04062" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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] }, { "id": "70303", "url": "https://www.rhea-db.org/rhea/70303", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70307", "url": "https://www.rhea-db.org/rhea/70307", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70311", "url": "https://www.rhea-db.org/rhea/70311", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70315", "url": "https://www.rhea-db.org/rhea/70315", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P04062", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0G2JLB3", "url": "https://www.uniprot.org/uniprot/A0A0G2JLB3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JLB3-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JLB3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JNZ0", "url": "https://www.uniprot.org/uniprot/A0A0G2JNZ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JNZ0-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JNZ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JNZ5", "url": "https://www.uniprot.org/uniprot/A0A0G2JNZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JNZ5-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JNZ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04062-1", "url": "https://www.uniprot.org/uniprot/P04062-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04062-2", "url": "https://www.uniprot.org/uniprot/P04062-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04062-3", "url": "https://www.uniprot.org/uniprot/P04062-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04062-4", "url": "https://www.uniprot.org/uniprot/P04062-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04062-5", "url": "https://www.uniprot.org/uniprot/P04062-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ", "length": 536, "header": "sp|P04062-1|GBA1_HUMAN Isoform 1 of Lysosomal acid glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=3 CANONICAL=P04062-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JLB3-1", "url": "", "sequence": { "sequence": "MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWCRQ", "length": 536, "header": "tr|A0A0G2JLB3-1|A0A0G2JLB3_HUMAN Computationally mapped isoform of Glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=1 CANONICAL=P04062-1" }, "locus": { "chromosome": "HSCHR1_2_CTG31", "start_pos": 46135, "end_pos": 40021, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574670.5", "url": "https://www.ensembl.org/id/ENST00000574670.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458274.1", "url": "https://www.ensembl.org/id/ENSP00000458274.1" } ] } }, { "isoform_ac": "A0A0G2JNZ0-1", "url": "", "sequence": { "sequence": "MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWCRQ", "length": 487, "header": "tr|A0A0G2JNZ0-1|A0A0G2JNZ0_HUMAN Computationally mapped isoform of Glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=1 CANONICAL=P04062-1" }, "locus": { "chromosome": "HSCHR1_2_CTG31", "start_pos": 46135, "end_pos": 40021, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613861.4", "url": "https://www.ensembl.org/id/ENST00000613861.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482397.1", "url": "https://www.ensembl.org/id/ENSP00000482397.1" } ] } }, { "isoform_ac": "A0A0G2JNZ5-1", "url": "", "sequence": { "sequence": "MELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWCRQ", "length": 449, "header": "tr|A0A0G2JNZ5-1|A0A0G2JNZ5_HUMAN Computationally mapped isoform of Glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=1 CANONICAL=P04062-1" }, "locus": { "chromosome": "HSCHR1_2_CTG31", "start_pos": 44954, "end_pos": 40021, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000618489.1", "url": "https://www.ensembl.org/id/ENST00000618489.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000482419.1", "url": "https://www.ensembl.org/id/ENSP00000482419.1" } ] } }, { "isoform_ac": "P04062-1", "url": "", "sequence": { "sequence": "MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ", "length": 536, "header": "sp|P04062-1|GBA1_HUMAN Isoform 1 of Lysosomal acid glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=3 CANONICAL=P04062-1" }, "locus": { "chromosome": "1", "start_pos": 155241112, "end_pos": 155234998, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368373.8", "url": "https://www.ensembl.org/id/ENST00000368373.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000357357.3", "url": "https://www.ensembl.org/id/ENSP00000357357.3" } ] } }, { "isoform_ac": "P04062-2", "url": "", "sequence": { "sequence": "MAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ", "length": 516, "header": "sp|P04062-2|GBA1_HUMAN Isoform 2 of Lysosomal acid glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=3 CANONICAL=P04062-1" }, "locus": {} }, { "isoform_ac": "P04062-3", "url": "", "sequence": { "sequence": "MASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNPSL", "length": 263, "header": "sp|P04062-3|GBA1_HUMAN Isoform 3 of Lysosomal acid glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=3 CANONICAL=P04062-1" }, "locus": {} }, { "isoform_ac": "P04062-4", "url": "", "sequence": { "sequence": "MELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ", "length": 449, "header": "sp|P04062-4|GBA1_HUMAN Isoform 4 of Lysosomal acid glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=3 CANONICAL=P04062-1" }, "locus": { "chromosome": "1", "start_pos": 155239931, "end_pos": 155234998, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428024.3", "url": "https://www.ensembl.org/id/ENST00000428024.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000397986.2", "url": "https://www.ensembl.org/id/ENSP00000397986.2" } ] } }, { "isoform_ac": "P04062-5", "url": "", "sequence": { "sequence": "MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ", "length": 487, "header": "sp|P04062-5|GBA1_HUMAN Isoform 5 of Lysosomal acid glucosylceramidase OS=Homo sapiens OX=9606 GN=GBA1 PE=1 SV=3 CANONICAL=P04062-1" }, "locus": { "chromosome": "1", "start_pos": 155241112, "end_pos": 155234998, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427500.7", "url": "https://www.ensembl.org/id/ENST00000427500.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000402577.2", "url": "https://www.ensembl.org/id/ENSP00000402577.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G08110WX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "1271", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1271" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G11870QZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "1271", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1271" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G12313PD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "1271", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1271" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "1271", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1271" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G30769VJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "1271", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1271" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G34617SM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "1271", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1271" }, { "id": "29741879", "database": 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Online.", "journal": "Human mutation", "date": "1998", "authors": "Choy FY, Humphries ML, Ben-Yoseph Y", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "10206680", "url": "https://glygen.org/publication/PubMed/10206680" } ] }, { "title": "Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.", "journal": "American journal of medical genetics", "date": "1999", "authors": "Wasserstein MP, Martignetti JA, Zeitlin R, Lumerman H, Solomon M, Grace ME, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "10340647", "url": "https://glygen.org/publication/PubMed/10340647" } ] }, { "title": "Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Stone DL, van Diggelen OP, de Klerk JB, Gaillard JL, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "10352942", "url": "https://glygen.org/publication/PubMed/10352942" } ] }, { "title": "Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.", "journal": "American journal of medical genetics", "date": "1999", "authors": "Choy FY, Wong K, Shi HP", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "10360404", "url": "https://glygen.org/publication/PubMed/10360404" } ] }, { "title": "Structural and membrane-binding properties of saposin D.", "journal": "European journal of biochemistry", "date": "1999-07", "authors": "Tatti M, Salvioli R, Ciaffoni F, Pucci P, Andolfo A, Amoresano A, Vaccaro A M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10406958", "url": "https://glygen.org/publication/PubMed/10406958" } ] }, { "title": "Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.", "journal": "Human mutation", "date": "1999", "authors": "Sarria AJ, Giraldo P, Perez-Calvo JI, Pocovi M", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "10447266", "url": "https://glygen.org/publication/PubMed/10447266" } ] }, { "title": "Type 2 Gaucher disease: an expanding phenotype.", "journal": "Mol. Genet. 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Insights into its role in the metabolism of dietary glucosides.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Berrin JG, McLauchlan WR, Needs P, Williamson G, Puigserver A, Kroon PA, Juge N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11784319", "url": "https://glygen.org/publication/PubMed/11784319" } ] }, { "title": "The E326K mutation and Gaucher disease: mutation or polymorphism?", "journal": "Clinical genetics", "date": "2002-01", "authors": "Park J K, Tayebi N, Stubblefield B K, LaMarca M E, MacKenzie J J, Stone D L, Sidransky E", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "11903352", "url": "https://glygen.org/publication/PubMed/11903352" } ] }, { "title": "The identification of eight novel glucocerebrosidase 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"Seeman PJ, Finckh U, Hoppner J, Lakner V, Liebisch I, Grau G, Rolfs A", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "8780099", "url": "https://glygen.org/publication/PubMed/8780099" } ] }, { "title": "Glucocerebrosidase mutations in Gaucher disease.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "1994", "authors": "Beutler E, Demina A, Gelbart T", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "8790604", "url": "https://glygen.org/publication/PubMed/8790604" } ] }, { "title": "Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system.", "journal": "FEBS letters", "date": "1996-09-09", "authors": "Kase R, Bierfreund U, Klein A, Kolter T, Itoh K, Suzuki M, Hashimoto Y, Sandhoff K, Sakuraba H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8804427", "url": "https://glygen.org/publication/PubMed/8804427" } ] }, { "title": "Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.", "journal": "Human mutation", "date": "1996", "authors": "Kim JW, Liou BB, Lai MY, Ponce E, Grabowski GA", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "8829654", "url": "https://glygen.org/publication/PubMed/8829654" } ] }, { "title": "Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.", "journal": "Human mutation", "date": "1996", "authors": "Cormand B, Vilageliu L, Balcells S, Gonzalez-Duarte R, Chabas A, Grinberg D", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "8829663", "url": "https://glygen.org/publication/PubMed/8829663" } ] }, { "title": "Glucocerebrosidase (Gaucher disease).", "journal": "Hum. Mutat.", "date": "1996", "authors": "Beutler E, Gelbart T", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" }, { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8889578", "url": "https://glygen.org/publication/PubMed/8889578" } ] }, { "title": "Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.", "journal": "Human mutation", "date": "1996", "authors": "Amaral O, Pinto E, Fortuna M, Lacerda L, Sa Miranda MC", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "8889591", "url": "https://glygen.org/publication/PubMed/8889591" } ] }, { "title": "The molecular characterization of Gaucher disease in South Africa.", "journal": "Clinical genetics", "date": "1996", "authors": "Morar B, Lane AB", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "8937765", "url": "https://glygen.org/publication/PubMed/8937765" } ] }, { "title": "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8955159", "url": "https://glygen.org/publication/PubMed/8955159" } ] }, { "title": "Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.", "journal": "Genes & development", "date": "1996", "authors": "Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "8985184", "url": 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beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Grace ME, Desnick RJ, Pastores GM", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9153297", "url": "https://glygen.org/publication/PubMed/9153297" } ] }, { "title": "Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.", "journal": "American journal of medical genetics", "date": "1997", "authors": "Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabas A", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9182788", "url": "https://glygen.org/publication/PubMed/9182788" } ] }, { "title": "Effect of saposins A and C on the enzymatic hydrolysis of liposomal glucosylceramide.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Vaccaro AM, Tatti M, Ciaffoni F, Salvioli R, Barca A, Scerch C", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9201993", "url": "https://glygen.org/publication/PubMed/9201993" } ] }, { "title": "Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A.", "journal": "Biochimica et biophysica acta", "date": "1997-06-20", "authors": "Yadao F, Hechtman P, Kaplan F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9217013", "url": "https://glygen.org/publication/PubMed/9217013" } ] }, { "title": "Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.", "journal": "American journal of medical genetics", "date": "1997", "authors": "Choy FY, Humphries ML, Shi H", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9217217", "url": "https://glygen.org/publication/PubMed/9217217" } ] }, { "title": "Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.", "journal": "American journal of medical genetics", "date": "1996-10-28", "authors": "Choy F Y, Wei C, Levin D", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9240741", "url": "https://glygen.org/publication/PubMed/9240741" } ] }, { "title": "Mutation analysis in 46 British and Irish patients with Gaucher's disease.", "journal": "Archives of disease in childhood", "date": "1997", "authors": "Hatton CE, Cooper A, Whitehouse C, Wraith JE", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9279145", "url": "https://glygen.org/publication/PubMed/9279145" } ] }, { "title": "Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.", "journal": "American journal of medical genetics", "date": "1997-10-03", "authors": "Rockah R, Narinsky R, Hatskelzon L, Frisch A", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9295080", "url": "https://glygen.org/publication/PubMed/9295080" } ] }, { "title": "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.", "journal": "Genome Res.", "date": "1997", "authors": "Winfield S L, Tayebi N, Martin B M, 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Dis.", "date": "1998", "authors": "Beutler E, Gelbart T", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9516376", "url": "https://glygen.org/publication/PubMed/9516376" } ] }, { "title": "Cloned mammalian neutral sphingomyelinase: functions in sphingolipid signaling?", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Tomiuk S, Hofmann K, Nix M, Zumbansen M, Stoffel W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9520418", "url": "https://glygen.org/publication/PubMed/9520418" } ] }, { "title": "Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.", "journal": "Biochemistry", "date": "1998", "authors": "Lukatela G, Krauss N, Theis K, Selmer T, Gieselmann V, von Figura K, Saenger W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9521684", "url": "https://glygen.org/publication/PubMed/9521684" } ] }, { "title": "Six new Gaucher disease mutations.", "journal": "Acta haematologica", "date": "1998", "authors": "Demina A, Beutler E", "evidence": [ { "database": "UniProtKB", "id": "P04062", "url": "https://www.uniprot.org/uniprot/P04062" } ], "reference": [ { "type": "PubMed", "id": "9554454", "url": "https://glygen.org/publication/PubMed/9554454" } ] }, { "title": "Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.", "journal": "Human mutation", "date": "1998", "authors": "Cormand B, Grinberg D, Gort L, Chabas A, Vilageliu L", "evidence": [ { 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503, "annotation": "n_glycosylation_sequon" }, { "start_pos": 58, "end_pos": 60, "annotation": "n_glycosylation_sequon" }, { "start_pos": 98, "end_pos": 100, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "11956", "name": "", "equation": "cholesteryl 3-beta-D-glucoside + H2O = cholesterol + D-glucose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5M868-1", "M0R3L8-1", "P04062-1", "Q9HCG7-1", "Q69ZF3-1", "P17439-1" ], "evidence": [ { "id": "11956", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11956" } ] }, { "id": "13269", "name": "", "equation": "a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5M868-1", "M0R3L8-1", "P04062-1", "Q9HCG7-1", "Q9H227-1", "P17439-1", "Q69ZF3-1", "Q7KT91-1", "Q9VCJ4-1", "Q8IMY3-1" ], "evidence": [ { "id": "13269", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/13269" } ] }, { "id": "14297", "name": "", "equation": "a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "Q5M868-1", "P54803-1", "P04062-1", "Q9HCG7-1", "Q9H227-1", "P54818-1", "P17439-1", "Q69ZF3-1" ], "evidence": [ { "id": "14297", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14297" } ] }, { "id": "58264", "name": "", "equation": "a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + cholesterol = an N-acylsphing-4-enine + cholesteryl 3-beta-D-glucoside", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5M868-1", "M0R3L8-1", "P04062-1", "Q9HCG7-1", "P17439-1", "Q69ZF3-1" ], "evidence": [ { "id": "58264", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/58264" } ] }, { "id": "58316", "name": "", "equation": "beta-D-glucosyl-(1<->1')-N-hexadecanoylsphing-4-enine + cholesterol = cholesteryl 3-beta-D-glucoside + N-hexadecanoylsphing-4-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04062-1", "P17439-1" ], "evidence": [ { "id": "58316", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/58316" } ] }, { "id": "58324", "name": "", "equation": "beta-D-glucosyl-N-(9Z-octadecenoyl)-sphing-4E-enine + cholesterol = cholesteryl 3-beta-D-glucoside + N-(9Z-octadecenoyl)-sphing-4-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "Q5M868-1", "P04062-1", "Q9HCG7-1", "P17439-1", "Q69ZF3-1" ], "evidence": [ { "id": "58324", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/58324" } ] }, { "id": "70235", "name": "", "equation": "a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + cholesterol = an N-acylsphing-4-enine + cholesteryl 3-beta-D-galactoside", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "Q5M868-1", "P04062-1", "Q9HCG7-1", "P17439-1", "Q69ZF3-1" ], "evidence": [ { "id": "70235", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70235" } ] }, { "id": "70239", "name": "", "equation": "a beta-D-xylosyl-(1<->1')-N-acylsphing-4-enine + cholesterol = an N-acylsphing-4-enine + cholesteryl 3-beta-D-xyloside", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "P04062-1", "Q9H227-1", "P17439-1" ], "evidence": [ { "id": "70239", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70239" } ] }, { "id": "70251", "name": "", "equation": "beta-D-xylosyl-(1<->1')-N-(9Z-octadecenoyl)-sphing-4-enine + cholesterol = cholesteryl 3-beta-D-xyloside + N-(9Z-octadecenoyl)-sphing-4-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "P04062-1", "P17439-1" ], "evidence": [ { "id": "70251", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70251" } ] }, { "id": "70255", "name": "", "equation": "1-(beta-D-galactosyl)-N-dodecanoylsphing-4-enine + cholesterol = cholesteryl 3-beta-D-galactoside + N-dodecanoylsphing-4-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "Q5M868-1", "P04062-1", "Q9HCG7-1", "P17439-1", "Q69ZF3-1" ], "evidence": [ { "id": "70255", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70255" } ] }, { "id": "70303", "name": "", "equation": "beta-D-glucosyl-N-octanoylsphing-4E-enine + cholesterol = cholesteryl 3-beta-D-glucoside + N-octanoylsphing-4-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "P04062-1", "P17439-1" ], "evidence": [ { "id": "70303", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70303" } ] }, { "id": "70307", "name": "", "equation": "beta-D-glucosyl-N-dodecanoylsphing-4-enine + cholesterol = cholesteryl 3-beta-D-glucoside + N-dodecanoylsphing-4-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "P04062-1", "P17439-1" ], "evidence": [ { "id": "70307", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70307" } ] }, { "id": "70311", "name": "", "equation": "beta-D-glucosyl-(1<->1)-N-octadecanoylsphing-4-enine + cholesterol = cholesteryl 3-beta-D-glucoside + N-octadecanoylsphing-4-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "P04062-1", "P17439-1" ], "evidence": [ { "id": "70311", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70311" } ] }, { "id": "70315", "name": "", "equation": "beta-D-glucosyl-(1<->1')-N-(15Z-tetracosenoyl)-sphing-4-enine + cholesterol = cholesteryl 3-beta-D-glucoside + N-(15Z-tetracosenoyl)-sphing-4-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "M0R3L8-1", "P04062-1", "P17439-1" ], "evidence": [ { "id": "70315", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/70315" } ] }, { "id": "R-HSA-1605591", "name": "GBA1:SAPC hydrolyzes GlcCer", "equation": "", "summary": "Human lysosomal glucosylceramidase (GBA1) hydrolyzes the glucosidic bond of glucocerebrosides (GlcCer) to form ceramide (Dinur et al. 1986). GBA1 requires a low-weight, non-enzymatic protein (one of the sphingolipids activator proteins) called Saposin-C (SAP-C) which acts with GBA1 to form an activated complex (Salvioli et al. 2000; Abdul-Hammed et al., 2017). Defects in GBA1 are the cause of Gaucher disease (GD) (MIM:230800), the most common glycolipid storage disorder, characterized by storage of glucocerebroside in the liver, spleen, and marrow (Beutler & Gelbart 1996).", "cellular_location": "lysosomal membrane, lysosomal lumen", "input_participant_list": [ "R-ALL-1605592" ], "output_participant_list": [ "R-ALL-1605673", "R-ALL-1605745" ], "enzyme_list": [ "P04062-1" ], "evidence": [ { "id": "R-HSA-1605591", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1605591" } ] }, { "id": "R-HSA-390470", "name": "Association of CCT/TriC with other substrates during biosynthesis (unknown chaperone)", "equation": "", "summary": "A combination of proteomic and bioinformatics analyses of TRiC substrates has revealed that they have complex topologies that are slow folding and aggregation prone (Yam et al., 2008). These substrates are also enriched in proteins that belong to oligomeric assemblies suggesting that TRiC plays a role in promoting complex assembly (Yam et al., 2008). Two possible mechanisms describing the role of TriC have been suggested (Yam et al., 2008). The processes of TRiC-mediated folding and assembly could be directly coupled, or TRiC could fold monomeric subunits and hold them in an assembly-competent state until they associate with the appropriate partner subunits. The complete list of TriC subsrates is not yet known. Many of its substrates that are targeted during biosynthesis are conserved between mammals and yeast (Yam et al. 2008).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15477-1", "O95302-1", "O15379-1", "Q86WA8-1", "P51784-1", "Q9H0D6-1", "O14556-1", "P04062-1" ], "evidence": [ { "id": "R-HSA-390470", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390470" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1605592", "participant_name": "GlcCer [lysosomal lumen]", "crossref": [ { "id": "22801", "database": "ChEBI", "url": "" }, { "id": "22801", "database": "ChEBI", "url": "" }, { "id": "22801", "database": "ChEBI", "url": "" }, { "id": "22801", "database": "ChEBI", "url": "" }, { "id": "22801", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-1605673", "participant_name": "CERA [lysosomal lumen]", "crossref": [ { "id": "C00195", "database": "COMPOUND", "url": "" }, { "id": "83273", "database": "ChEBI", "url": "" }, { "id": "83273", "database": "ChEBI", "url": "" }, { "id": "C00195", "database": "COMPOUND", "url": "" }, { "id": "C00195", "database": "COMPOUND", "url": "" }, { "id": "83273", "database": "ChEBI", "url": "" }, { "id": "C00195", "database": "COMPOUND", "url": "" }, { "id": "83273", "database": "ChEBI", "url": "" }, { "id": "C00195", "database": "COMPOUND", "url": "" }, { "id": "83273", "database": "ChEBI", "url": "" }, { "id": "C00195", "database": "COMPOUND", "url": "" }, { "id": "83273", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-1605745", "participant_name": "Glc [lysosomal lumen]", "crossref": [ { "id": "C00267", "database": "COMPOUND", "url": "" }, { "id": "17925", "database": "ChEBI", "url": "" }, { "id": "G58161NS", "database": "GlyTouCan", "url": "" }, { "id": "000003861213", "database": "ZINC", "url": "" }, { "id": "HMDB0003345", "database": "HMDB Metabolite", "url": "" }, { "id": "8143952", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0003345", "database": "HMDB Metabolite", "url": "" }, { "id": "17925", "database": "ChEBI", "url": "" }, { "id": "G58161NS", "database": "GlyTouCan", "url": "" }, { "id": "C00267", "database": "COMPOUND", "url": "" }, { "id": "8143952", "database": "PubChem Substance", "url": "" }, { "id": "000003861213", "database": "ZINC", "url": "" }, { "id": "C00267", "database": "COMPOUND", "url": "" }, { "id": "17925", "database": "ChEBI", "url": "" }, { "id": "G58161NS", "database": "GlyTouCan", "url": "" }, { "id": "000003861213", "database": "ZINC", "url": "" }, { "id": "HMDB0003345", "database": "HMDB Metabolite", "url": "" }, { "id": "8143952", "database": "PubChem Substance", "url": "" }, { "id": "C00267", "database": "COMPOUND", "url": "" }, { "id": "000003861213", "database": "ZINC", "url": "" }, { "id": "8143952", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0003345", "database": "HMDB Metabolite", "url": "" }, { "id": "17925", "database": "ChEBI", "url": "" }, { "id": "G58161NS", "database": "GlyTouCan", "url": "" }, { "id": "C00267", "database": "COMPOUND", "url": "" }, { "id": "17925", "database": "ChEBI", "url": "" }, { "id": "G58161NS", "database": "GlyTouCan", "url": "" }, { "id": "000003861213", "database": "ZINC", "url": "" }, { "id": "HMDB0003345", "database": "HMDB Metabolite", "url": "" }, { "id": "8143952", "database": "PubChem Substance", "url": "" }, { "id": "C00267", "database": "COMPOUND", "url": "" }, { "id": "17925", "database": "ChEBI", "url": "" }, { "id": "G58161NS", "database": "GlyTouCan", "url": "" }, { "id": "000003861213", "database": "ZINC", "url": "" }, { "id": "HMDB0003345", "database": "HMDB Metabolite", "url": "" }, { "id": "8143952", "database": "PubChem Substance", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "M0R3L8", "gene_name": "Gba1", "activity": [ { "ec_number": "3.2.1.45", "activity": "a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose.", "evidence": [ { "id": "M0R3L8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0R3L8" } ] }, { "ec_number": "3.2.1.45", "activity": "", "evidence": [ { "id": "M0R3L8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0R3L8" } ] } ] }, { "uniprot_ac": "O14556", "gene_name": "GAPDHS", "activity": [ { "ec_number": "1.2.1.12", "activity": "D-glyceraldehyde 3-phosphate + NAD(+) + phosphate = (2R)-3-phospho-glyceroyl phosphate + H(+) + NADH.", "evidence": [ { "id": "O14556", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14556" } ] }, { "ec_number": "1.2.1.12", "activity": "", "evidence": [ { "id": "O14556", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14556" } ] } ] }, { "uniprot_ac": "O15379", "gene_name": "HDAC3", "activity": [ { "ec_number": "3.5.1.98", "activity": "H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone].", "evidence": [ { "id": "O15379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15379" } ] }, { "ec_number": "3.5.1.98", "activity": "", "evidence": [ { "id": "O15379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15379" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "O15379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15379" } ] } ] }, { "uniprot_ac": "O95302", "gene_name": "FKBP9", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "O95302", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95302" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "O95302", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95302" } ] } ] }, { "uniprot_ac": "P04062", "gene_name": "GBA1", "activity": [ { "ec_number": "3.2.1.45", "activity": "a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose.", "evidence": [ { "id": "P04062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04062" } ] }, { "ec_number": "3.2.1.45", "activity": "", "evidence": [ { "id": "P04062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04062" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "P04062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04062" } ] }, { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P04062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04062" } ] }, { "ec_number": "3.2.1.46", "activity": "a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose.", "evidence": [ { "id": "P04062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04062" } ] } ] }, { "uniprot_ac": "P17439", "gene_name": "Gba1", "activity": [ { "ec_number": "3.2.1.45", "activity": "a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose.", "evidence": [ { "id": "P17439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17439" } ] }, { "ec_number": "3.2.1.45", "activity": "", "evidence": [ { "id": "P17439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17439" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "P17439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17439" } ] }, { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P17439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17439" } ] }, { "ec_number": "3.2.1.46", "activity": "a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose.", "evidence": [ { "id": "P17439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17439" } ] } ] }, { "uniprot_ac": "P51784", "gene_name": "USP11", "activity": [ { "ec_number": "3.4.19.12", "activity": "Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).", "evidence": [ { "id": "P51784", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51784" } ] }, { "ec_number": "3.4.19.12", "activity": "", "evidence": [ { "id": "P51784", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51784" } ] } ] }, { "uniprot_ac": "P54803", "gene_name": "GALC", "activity": [ { "ec_number": "3.2.1.46", "activity": "a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose.", "evidence": [ { "id": "P54803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54803" } ] }, { "ec_number": "3.2.1.46", "activity": "", "evidence": [ { "id": "P54803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54803" } ] } ] }, { "uniprot_ac": 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