{ "uniprot_canonical_ac": "P10253-1", "uniprot_ac": "P10253", "uniprot_id": "LYAG_HUMAN", "mass": { "chemical_mass": 105324.0, "monoisotopic_mass": 105324.0 }, "refseq": { "ac": "NP_000143", "name": "lysosomal alpha-glucosidase preproprotein", "summary": "This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, "gene_names": [ { "name": "GAA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10253", "id": "P10253" }, { "name": "GAA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143", "id": "NP_000143" }, { "name": "LYAG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143", "id": "NP_000143" } ], "protein_names": [ { "name": "Lysosomal alpha-glucosidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10253" }, { "name": "3.2.1.20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10253" }, { "name": "Acid maltase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10253" }, { "name": "Aglucosidase alfa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10253" }, { "name": "lysosomal alpha-glucosidase preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143", "id": "NP_000143" }, { "name": "lysosomal alpha-glucosidase; acid maltase; aglucosidase alfa; glucosidase alpha, acid", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143", "id": "NP_000143" } ], "function": [ { "annotation": "Data show that the mature forms of GAA characterized by polypeptides of 76 or 70 kDa are in fact larger molecular mass multicomponent enzyme complexes; peptides released during proteolytic processing remained tightly associated with the major species", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, { "database": "PubMed", "id": "15520017", "url": "https://glygen.org/publication/PubMed/15520017" } ] }, { "annotation": "Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253#function" }, { "database": "PubMed", "id": "7717400", "url": "https://glygen.org/publication/PubMed/7717400" }, { "database": "PubMed", "id": "14695532", "url": "https://glygen.org/publication/PubMed/14695532" }, { "database": "PubMed", "id": "18429042", "url": "https://glygen.org/publication/PubMed/18429042" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" }, { "database": "PubMed", "id": "29061980", "url": "https://glygen.org/publication/PubMed/29061980" } ] }, { "annotation": "Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, { "database": "PubMed", "id": "37542277", "url": "https://glygen.org/publication/PubMed/37542277" } ] }, { "annotation": "Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, { "database": "PubMed", "id": "37470282", "url": "https://glygen.org/publication/PubMed/37470282" } ] }, { "annotation": "Phase I study of liver depot gene therapy in late-onset Pompe disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, { "database": "PubMed", "id": "36805083", "url": "https://glygen.org/publication/PubMed/36805083" } ] }, { "annotation": "This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] } ], "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase acid deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA glycogen storage disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe's disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of glucoamylase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of maltase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalised glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalized glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease caused by mutation in GAA", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease, type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Aglucosidase alfa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Cardiomegalia Glycogenica diffusa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of lysosomal alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glucosidase acid-1,4-alpha deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, generalized, Cardiac form", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Glycogen storage disease 2", "description": "Glycogen storage disease 2" } ], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" } ] }, { "disease_id": "MONDO:0018485", "recommended_name": { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease due to acid maltase deficiency, late-onset", "description": "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." }, "synonyms": [ { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "Alpha-1,4-glucosidase acid deficiency, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "Alpha-1,4-glucosidase acid deficiency, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD due to acid maltase deficiency, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD due to acid maltase deficiency, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD type 2, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD type 2, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD type II, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "GSD type II, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "Pompe disease, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "Pompe disease, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease type 2, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease type 2, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease type II, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogen storage disease type II, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogenosis type 2, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogenosis type 2, late-onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogenosis type II, late onset", "description": "" }, { "id": "MONDO:0018485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485", "name": "glycogenosis type II, late-onset", "description": "" } ], "evidence": [ { "id": "0018485", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485" } ] } ], "snv": [ { "evidence": [ { "id": "rs754195673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754195673" }, { "id": "rs754195673", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754195673" }, { "id": "rs754195673", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754195673#frequency_tab" }, { "id": "rs754195673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754195673" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 142, "end_pos": 142, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS); n-glyco-sequon-loss (NLS->NLN); o-glyco-site-loss (S->N).", "chr_id": "17", "chr_pos": "80105011", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S142", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase acid deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA glycogen storage disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": 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"https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of lysosomal alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glucosidase acid-1,4-alpha deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, generalized, Cardiac form", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Glycogen storage disease 2", "description": "Glycogen storage disease 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10253" } ], "glycoeffect": [], "start_pos": 199, "end_pos": 199, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "80105798", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "H199", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive 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"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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs781731240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781731240" }, { "id": "rs781731240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781731240" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 235, "end_pos": 235, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTA).", "chr_id": "17", "chr_pos": "80107567", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752950890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752950890" }, { "id": "rs752950890", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752950890" }, { "id": "rs752950890", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752950890#frequency_tab" }, { "id": "rs752950890", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752950890" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 235, "end_pos": 235, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTM).", "chr_id": "17", "chr_pos": "80107568", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T235", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase acid deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA glycogen storage disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe's disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of glucoamylase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of maltase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalised glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalized glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease caused by mutation in GAA", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease, type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Aglucosidase alfa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Cardiomegalia Glycogenica diffusa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of lysosomal alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glucosidase acid-1,4-alpha deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, generalized, Cardiac form", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Glycogen storage disease 2", "description": "Glycogen storage disease 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10253" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 254, "end_pos": 254, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "80107625", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S254", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1429834723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429834723" }, { "id": "rs1429834723", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429834723" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 270, "end_pos": 270, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "17", "chr_pos": "80107673", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs121907936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907936" }, { "id": "rs121907936", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907936" }, { "id": "rs121907936", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121907936#frequency_tab" }, { "id": "rs121907936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121907936" }, { "id": "1652892", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1652892" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 318, "end_pos": 318, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAM->NAT).", "chr_id": "17", "chr_pos": "80107894", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M318", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase acid deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA glycogen storage disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe's disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of glucoamylase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of maltase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalised glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalized glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease caused by mutation in GAA", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease, type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Aglucosidase alfa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Cardiomegalia Glycogenica diffusa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Aglucosidase alfa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Cardiomegalia Glycogenica diffusa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of lysosomal alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glucosidase acid-1,4-alpha deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, generalized, Cardiac form", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Glycogen storage disease 2", "description": "Glycogen storage disease 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs17853995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17853995" }, { "id": "rs17853995", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17853995" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 61, "end_pos": 61, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "17", "chr_pos": "80104769", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S61", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1057518106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057518106" }, { "id": "rs1057518106", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1057518106" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 654, "end_pos": 654, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NT*).", "chr_id": "17", "chr_pos": "80112948", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S654", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase acid deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA glycogen storage disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe's disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of glucoamylase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of maltase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalised glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalized glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease caused by mutation in GAA", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease, type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Aglucosidase alfa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Cardiomegalia Glycogenica diffusa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of lysosomal alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glucosidase acid-1,4-alpha deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, generalized, Cardiac form", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Glycogen storage disease 2", "description": "Glycogen storage disease 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10253" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 654, "end_pos": 654, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTS->NTL).", "chr_id": "17", "chr_pos": "80112948", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S654", "disease": [ { 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"http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { 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"chr_pos": "80113011", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "N675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355454728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355454728" }, { "id": "rs1355454728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355454728#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 686, "end_pos": 686, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "17", "chr_pos": "80113234", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S686", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1381005435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381005435" }, { "id": "rs1381005435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1381005435#frequency_tab" }, { "id": "rs1381005435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381005435" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 737, "end_pos": 737, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TWT->NWT).", "chr_id": "17", "chr_pos": "80116988", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T737", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to 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AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase acid deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA glycogen storage disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe's disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of glucoamylase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of maltase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalised glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalized glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease caused by mutation in GAA", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease, type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Aglucosidase alfa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Cardiomegalia Glycogenica diffusa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of lysosomal alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glucosidase acid-1,4-alpha deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, generalized, Cardiac form", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Glycogen storage disease 2", "description": "Glycogen storage disease 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10253" } ], "glycoeffect": [], "start_pos": 780, "end_pos": 780, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "80117606", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V780", "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": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1800315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1800315" }, { "id": "rs1800315", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1800315" }, { "id": "rs1800315", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1800315" }, { "id": "rs1800315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1800315#frequency_tab" }, { "id": "rs1800315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1800315" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 927, "end_pos": 927, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI).", "chr_id": "17", "chr_pos": "80118786", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.05431", "site_lbl": "T927", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase acid deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA glycogen storage disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Pompe's disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of glucoamylase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of maltase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalised glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "generalized glycogenosis", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease caused by mutation in GAA", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease, type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis type II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, type 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Aglucosidase alfa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "Cardiomegalia Glycogenica diffusa", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GAA deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD II", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "GSD2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "acid maltase deficiency disease", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "deficiency of lysosomal alpha-glucosidase", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glucosidase acid-1,4-alpha deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease 2", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogen storage disease due to acid maltase deficiency", "description": "" }, { "id": "MONDO:0009290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009290", "name": "glycogenosis, generalized, Cardiac form", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Glycogen storage disease 2", "description": "Glycogen storage disease 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10253" } ], "glycoeffect": [], "start_pos": 931, "end_pos": 931, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "80118797", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D931", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10253", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10253" } ], "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": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "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": "P10253", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10253" } ], "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": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "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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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P10253", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10253" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10253", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10253" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22762:SF92", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5KZW", "url": "https://www.rcsb.org/structure/5KZW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5KZX", "url": "https://www.rcsb.org/structure/5KZX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN3", "url": "https://www.rcsb.org/structure/5NN3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN4", "url": "https://www.rcsb.org/structure/5NN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN5", "url": "https://www.rcsb.org/structure/5NN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN6", "url": "https://www.rcsb.org/structure/5NN6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NN8", "url": "https://www.rcsb.org/structure/5NN8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P2Z", "url": "https://www.rcsb.org/structure/7P2Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P32", "url": "https://www.rcsb.org/structure/7P32", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00088", "url": "http://pfam.xfam.org/family/PF00088", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01055", "url": "http://pfam.xfam.org/family/PF01055", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13802", "url": "http://pfam.xfam.org/family/PF13802", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21365", "url": "http://pfam.xfam.org/family/PF21365", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10253", "url": "https://pharos.nih.gov/targets/P10253", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054736", "url": "https://proconsortium.org/app/entry/PR:000054736", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054737", "url": "https://proconsortium.org/app/entry/PR:000054737", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054738", "url": "https://proconsortium.org/app/entry/PR:000054738", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054739", "url": "https://proconsortium.org/app/entry/PR:000054739", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054740", "url": "https://proconsortium.org/app/entry/PR:000054740", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054741", "url": "https://proconsortium.org/app/entry/PR:000054741", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054742", "url": "https://proconsortium.org/app/entry/PR:000054742", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054743", "url": "https://proconsortium.org/app/entry/PR:000054743", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054744", "url": "https://proconsortium.org/app/entry/PR:000054744", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054745", "url": "https://proconsortium.org/app/entry/PR:000054745", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054746", "url": "https://proconsortium.org/app/entry/PR:000054746", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054747", "url": "https://proconsortium.org/app/entry/PR:000054747", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054748", "url": "https://proconsortium.org/app/entry/PR:000054748", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P10253", "url": "http://purl.obolibrary.org/obo/PR_P10253", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5357609", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5357609", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P10253", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "I3L0S5", "url": "https://www.uniprot.org/uniprot/I3L0S5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L0S5-1", "url": "https://www.uniprot.org/uniprot/I3L0S5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L2V9", "url": "https://www.uniprot.org/uniprot/I3L2V9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L2V9-1", "url": "https://www.uniprot.org/uniprot/I3L2V9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L3L3", "url": "https://www.uniprot.org/uniprot/I3L3L3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L3L3-1", "url": "https://www.uniprot.org/uniprot/I3L3L3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10253-1", "url": "https://www.uniprot.org/uniprot/P10253-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 952, "header": "sp|P10253-1|LYAG_HUMAN Isoform 1 of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=4 CANONICAL=P10253-1" }, "isoforms": [ { "isoform_ac": "I3L0S5-1", "url": "", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPL", "length": 208, "header": "tr|I3L0S5-1|I3L0S5_HUMAN Computationally mapped isoform of Alpha glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577106.5", "url": "https://www.ensembl.org/id/ENST00000577106.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458306.1", "url": "https://www.ensembl.org/id/ENSP00000458306.1" } ] } }, { "isoform_ac": "I3L2V9-1", "url": "", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPA", "length": 630, "header": "tr|I3L2V9-1|I3L2V9_HUMAN Computationally mapped isoform of Alpha glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=2 CANONICAL=P10253-1" }, "locus": {} }, { "isoform_ac": "I3L3L3-1", "url": "", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLA", "length": 284, "header": "tr|I3L3L3-1|LYAG_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=8 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570803.5", "url": "https://www.ensembl.org/id/ENST00000570803.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460543.1", "url": "https://www.ensembl.org/id/ENSP00000460543.1" } ] } }, { "isoform_ac": "P10253-1", "url": "", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 952, "header": "sp|P10253-1|LYAG_HUMAN Isoform 1 of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=4 CANONICAL=P10253-1" }, "locus": { "chromosome": "HG2118_PATCH", "start_pos": 144034, "end_pos": 129293, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707779.1", "url": "https://www.ensembl.org/id/ENST00000707779.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516980.1", "url": "https://www.ensembl.org/id/ENSP00000516980.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "P10253", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "723", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/723" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G14343MU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "P10253", "database": "UniCarbKB", "url": "" }, { "id": "17293352", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17293352" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "723", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/723" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G25637MV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "723", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/723" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G30084YQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "P10253", "database": "UniCarbKB", "url": "" }, { "id": "17293352", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17293352" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "723", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/723" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G50282JC", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "P10253", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "723", "database": "GlyConnect", "url": 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technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P10253", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "P10253", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.", "journal": "Human mutation", "date": "1999", "authors": "Raben N, Lee E, Lee L, Hirschhorn R, Plotz PH", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "10189220", "url": "https://glygen.org/publication/PubMed/10189220" } ] }, { "title": "The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.", "journal": "Human mutation", "date": "1998", "authors": "Beesley CE, Child AH, Yacoub MH", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "10206684", "url": "https://glygen.org/publication/PubMed/10206684" } ] }, { "title": "Molecular genetic study of Pompe disease in Chinese patients in Taiwan.", "journal": "Hum. Mutat.", "date": "1999", "authors": "Ko T M, Hwu W L, Lin Y W, Tseng L H, Hwa H L, Wang T R, Chuang S M", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "10338092", "url": "https://glygen.org/publication/PubMed/10338092" } ] }, { "title": "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "1999", "authors": "Brushia RJ, Walsh DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "10487978", "url": "https://glygen.org/publication/PubMed/10487978" } ] }, { "title": "Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.", "journal": "Neurogenetics", "date": "1998", "authors": "Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "10737124", "url": "https://glygen.org/publication/PubMed/10737124" } ] }, { "title": "Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core.", "journal": "Molecular cell", "date": "2000", "authors": "Rath VL, Ammirati M, LeMotte PK, Fennell KF, Mansour MN, Danley DE, Hynes TR, Schulte GK, Wasilko DJ, Pandit J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "10949035", "url": "https://glygen.org/publication/PubMed/10949035" } ] }, { "title": "Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.", "journal": "Neurology", "date": "2000", "authors": "Laforet P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, Fardeau M", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "11071489", "url": "https://glygen.org/publication/PubMed/11071489" } ] }, { "title": "Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).", "journal": "Neuromuscular disorders : NMD", "date": "2002", "authors": "Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, Teijeira S, Anyane-Yeboa K, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "11738358", "url": "https://glygen.org/publication/PubMed/11738358" } ] }, { "title": "Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.", "journal": "Neurology", "date": "2003", "authors": "Lam CW, Yuen YP, Chan KY, Tong SF, Lai CK, Chow TC, Lee KC, Chan YW, Martiniuk F", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "12601120", "url": "https://glygen.org/publication/PubMed/12601120" } ] }, { "title": "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.", "journal": "Nature biotechnology", "date": "2003", "authors": "Zhang H, Li XJ, Martin DB, Aebersold R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253#ptm_processing" }, { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" } ] }, { "title": "Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.", "journal": "European journal of human genetics : EJHG", "date": "2003", "authors": "Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "12825073", "url": "https://glygen.org/publication/PubMed/12825073" } ] }, { "title": "Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.", "journal": "American journal of medical genetics. 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} ], "reference": [ { "type": "PubMed", "id": "9535769", "url": "https://glygen.org/publication/PubMed/9535769" } ] }, { "title": "Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.", "journal": "Clinical genetics", "date": "1998", "authors": "Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "reference": [ { "type": "PubMed", "id": "9660056", "url": "https://glygen.org/publication/PubMed/9660056" } ] }, { "title": "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.", "journal": "The Journal of clinical investigation", "date": "1998", "authors": "Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9691087", "url": "https://glygen.org/publication/PubMed/9691087" } ] } ], "pathway": [ { "id": "hsa:2548", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2548", "resource": "KEGG Pathway" }, { "id": "R-HSA-5357609", "name": "Glycogen storage disease type II (GAA)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5357609", "resource": "Reactome", "description": "Glycogen storage disease type II (GAA)" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-70221", "name": "Glycogen breakdown (glycogenolysis)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "resource": "Reactome", "description": "Glycogen breakdown (glycogenolysis)" } ], "orthologs": [ { "uniprot_canonical_ac": "P70699-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "Gaa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNIRKPLCSNSVVGACTLISLTTAVILGHLMLRELMLLPQDLHESSSGLWKTYRPHHQEGYKPGPLHIQEQTEQPKEAPTQCDVPPSSRFDCAPDKGISQEQCEARGCCYVPAGQVLKEPQIGQPWCFFPPSYPSYRLENLSSTESGYTATLTRTSPTFFPKDVLTLQLEVLMETDSRLHFKIKDPASKRYEVPLETPRVLSQAPSPLYSVEFSEEPFGVIVRRKLGGRVLLNTTVAPLFFADQFLQLSTSLPSQHITGLGEHLSPLMLSTDWARITLWNRDTPPSQGTNLYGSHPFYLALEDGGLAHGVFLLNSNAMDVILQPSPALTWRSTGGILDVYVFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAIVRQVVENMTRTHFPLDVQWNDLDYMDARRDFTFNQDSFADFPDMVRELHQDGRRYMMIVDPAISSAGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGTTAFPDFTNPETLDWWQDMVSEFHAQVPFDGMWLDMNEPSNFVRGSQQGCPNNELENPPYVPGVVGGILQAATICASSHQFLSTHYNLHNLYGLTEAIASSRALVKTRGTRPFVISRSTFSGHGRYAGHWTGDVRSSWEHLAYSVPDILQFNLLGVPLVGADICGFIGDTSEELCVRWTQLGAFYPFMRNHNDLNSVPQEPYRFSETAQQAMRKAFALRYALLPYLYTLFHRAHVRGDTVARPLFLEFPEDPSTWSVDRQLLWGPALLITPVLEPGKTEVTGYFPKGTWYNMQMVSVDSLGTLPSPSSASSFRSAVQSKGQWLTLEAPLDTINVHLREGYIIPLQGPSLTTTESRKQPMALAVALTASGEADGELFWDDGESLAVLERGAYTLVTFSAKNNTIVNKLVRVTKEGAELQLREVTVLGVATAPTQVLSNGIPVSNFTYSPDNKSLAIPVSLLMGELFQISWS", "length": 953 }, "evidence": [ { "id": "45921084", "url": "http://www.informatics.jax.org/homology/45921084", "database": "MGI" }, { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q6P7A9-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "Gaa", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNIRKPLCSNSVVGACTLVSLTTAVILGHLMLRELMLLPQDLHESSSGLWKTYRPHHQESYEPAPLHIQEHAEQLRAVPTQCDVTPNSRFDCAPDKGITQEQCEARGCCWVPAGQVLNGPVMGQPWCFFPPSYPSYRLENLSSTESGYTATLTRTSPTFFPKDVLTLQLEVLMETDSRLHFMIKDPTSKRYEVPLETPRVLSQAPSPLYSVEFSEEPFGVIVRRKLGGRVLLNTTVAPLFFADQFLQLSTSLPSQHIAGLGEHLSPLMLSTEWTRITLWNRDVAPSQGVNLYGSHPFYLALEDGGLAHGVFLLNSNAMDVVLQPSPALTWRSTGGILDVYVFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAIVRQVVENMTRTHFPLDVQWNDLDYMDARRDFTFNQDGFADFPDMVHELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPETLDWWQDMVSEFHAQVPFDGMWIDMNEPSNFIRGSQQGCPDNELENPPYVPGVVGGALQAATICASSHQFLSTHYNLHNLYGLTEAIASSRALVKTRGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEHLAYSVPEILQFNLLGVPLVGADICGFQGNTTEELCVRWTQLGAFYPFMRNHNDLNSLPQEPYRFSETAQQAMRKAFTLRYALLPYLYTLFHGAHVKGDTVARPLFLEFPEDPSTWSVDRQLLWGPALLITPVLEPGKTDVTGYFPKGMWYNLQMVPVETLGSLPSSSPASSFRSIVHSKGQWLTLEAPLDTINVHLRAGYIIPLQGPSLTTTESRKQPMALAVALTESGEASGELFWDDGESLGVLERGAYTLVTFSAKNNTIVNKLVHVTKEGGELQLREVTILGVTTAPTQVLSNGISVSNFTYSPDDKSLSIPVSLLMGERFQIDWS", "length": 953 }, "evidence": [ { "id": "45921084", "url": "http://www.informatics.jax.org/homology/45921084", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "tertiary granule membrane", "id": "GO:0070821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070821", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "ficolin-1-rich granule membrane", "id": "GO:0101003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101003", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "azurophil granule membrane", "id": "GO:0035577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035577", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "autolysosome lumen", "id": "GO:0120282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120282", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 18, "go_terms": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "glycophagy", "id": "GO:0061723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061723", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "maltose metabolic process", "id": "GO:0000023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000023", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "diaphragm contraction", "id": "GO:0002086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002086", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "sucrose metabolic process", "id": "GO:0005985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005985", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "vacuolar sequestering", "id": "GO:0043181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043181", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "glycogen catabolic process", "id": "GO:0005980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005980", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "hydrolase activity, hydrolyzing O-glycosyl compounds", "id": "GO:0004553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004553", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "alpha-1,4-glucosidase activity", "id": "GO:0004558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004558", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "maltose alpha-glucosidase activity", "id": "GO:0032450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032450", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" }, { "name": "alpha-glucosidase activity", "id": "GO:0090599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090599", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "lysosomal alpha-glucosidase N-glycosylated 1 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-140 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G14343MU. Example: UniProtKB:P10253-1, Asn-140, MOD:00160~GNO:G14343MU. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054736", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054736" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 2 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-140 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G30084YQ. Example: UniProtKB:P10253-1, Asn-140, MOD:00160~GNO:G30084YQ. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054737", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054737" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 3 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-233 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G36437LH. Example: UniProtKB:P10253-1, Asn-233, MOD:00160~GNO:G36437LH. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054738", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054738" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 4 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-233 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G93993PD. Example: UniProtKB:P10253-1, Asn-233, MOD:00160~GNO:G93993PD. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054739", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054739" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 5 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-390 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:P10253-1, Asn-390, MOD:00160~GNO:G55220VL. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054740", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054740" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 6 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-390 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P10253-1, Asn-390, MOD:00160~GNO:G57317CE. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000054741", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054741" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 7 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-470 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G36437LH. Example: UniProtKB:P10253-1, Asn-470, MOD:00160~GNO:G36437LH. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054742", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054742" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 8 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-470 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G48213MO. Example: UniProtKB:P10253-1, Asn-470, MOD:00160~GNO:G48213MO. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054743", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054743" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 9 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-470 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:P10253-1, Asn-470, MOD:00160~GNO:G55220VL. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054744", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054744" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 10 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-652 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G10300DY. Example: UniProtKB:P10253-1, Asn-652, MOD:00160~GNO:G10300DY. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054745", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054745" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 11 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-652 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:P10253-1, Asn-652, MOD:00160~GNO:G55220VL. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054746", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054746" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 12 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-652 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan structure is represented by GlyTouCan:G84852GW. Example: UniProtKB:P10253-1, Asn-652, MOD:00160~GNO:G84852GW. [PRO:DNx, PMID:17293352]", "evidence": [ { "id": "PR:000054747", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054747" } ] }, { "name": "lysosomal alpha-glucosidase N-glycosylated 13 (human)", "definition": "A lysosomal alpha-glucosidase (human) that has been N-glycosylated at the residue equivalent to Asn-882 of the amino acid sequence represented by UniProtKB:P10253-1, in which the glycan composition is represented by GlyTouCan:G92050GC. Example: UniProtKB:P10253-1, Asn-882, MOD:00160~GNO:G92050GC. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000054748", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054748" } ] } ], "site_annotation": [ { "start_pos": 140, "end_pos": 142, "annotation": "n_glycosylation_sequon" }, { "start_pos": 233, "end_pos": 235, "annotation": "n_glycosylation_sequon" }, { "start_pos": 390, "end_pos": 392, "annotation": "n_glycosylation_sequon" }, { "start_pos": 470, "end_pos": 472, "annotation": "n_glycosylation_sequon" }, { "start_pos": 652, "end_pos": 654, "annotation": "n_glycosylation_sequon" }, { "start_pos": 882, "end_pos": 884, "annotation": "n_glycosylation_sequon" }, { "start_pos": 925, "end_pos": 927, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "The different forms of acid glucosidase are obtained by proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprot/P10253" }, { "database": "PubMed", "id": "3049072", "url": "https://glygen.org/publication/PubMed/3049072" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-6798739", "name": "Exocytosis of azurophil granule membrane proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).", "cellular_location": "plasma membrane, azurophil granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P51148-1", "P42785-1", "P61224-1", "P49768-1", "Q86UQ4-1", "Q9Y2Q0-1", "Q9Y2G3-1", "P10253-1", "P15291-1", "O95497-1", "Q8NF37-1", "O00462-1", "P10620-1", "P15309-1" ], "evidence": [ { "id": "R-HSA-6798739", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798739" } ] }, { "id": "R-HSA-6798747", "name": "Exocytosis of tertiary granule membrane proteins", "equation": "", "summary": "Tertiary (gelatinase) granules are part of a continuum of peroxidase-negative granules formed in myelocytes, metamyelocytes, band cells and segmented neutrophils. They differ from secondary granules by having a low content of antimicrobial substances, and are more readily exocytosed (Sengelov et al. 1995). Tertiary granules are primarily a reservoir of extracellular matrix degrading enzymes and membrane receptors that are required for neutrophil extravasation and diapedesis (Faurschou & Borregaard 2003).", "cellular_location": "plasma membrane, tertiary granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P01111-1", "Q13393-1", "Q9Y3L5-1", "P61225-1", "O43451-2", "P00749-1", "O14672-1", "P78325-1", "Q8TF62-1", "P98196-1", "Q13303-1", "P10253-1", "Q5T4S7-1", "P04839-1", "Q68CP4-1", "P23467-1" ], "evidence": [ { "id": "R-HSA-6798747", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798747" } ] }, { "id": "R-HSA-6800426", "name": "Exocytosis of ficolin-rich granule membrane proteins", "equation": "", "summary": "Ficoli-1 rich granules are a relatively new fourth neutrophil granule population that is enriched in the microbial lectin ficolin-1. Ficolin-1 is present in tertiary granules, but ficolin-1 rich granules can be differentiated by having low levels of gelatinases and an elevated exocytosis propensity (Rorvig et al. 2009, 2013). The importance of these granules may be to provide rapid release of pattern recognition molecules to activate the lectin complement pathway (Rorvig et al. 2009).", "cellular_location": "plasma membrane, ficolin-1-rich granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P42785-1", "O43451-2", "P78325-1", "P63000-1", "P61586-1", "P10253-1", "Q5T4S7-1", "Q9Y6X5-1", "Q92932-1" ], "evidence": [ { "id": "R-HSA-6800426", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800426" } ] }, { "id": "R-HSA-9036727", "name": "GAA hydrolyzes lysosomal glycogen", "equation": "", "summary": "While most glycogen is cytosolic, glycogen granules are also found in lysosomes, which they are thought to enter by autophagy. Once in lysosomes, the polysaccharide component of the granules is degraded by a single enzyme, lysosomal alpha-glucosidase (GAA), which hydrolyzes both alpha(1,4) and alpha(1,6) linkages to yield free glucose (Brown et al. 1970). The fate of the glycogenin protein component of the granules has not been studied; it is thought to be degraded by the diverse lysosomal proteases (Muller et al. 2012).
Mutations that reduce the activity of GAA are associated with glycogen storage disease type II (Pompe disease) (Hirschhorn & Reuser 2001; Leslie & Tinkle). The most active forms of GAA are 70 and 76 kDa polypeptides generated by removal of both aminoterminal and carboxyterminal fragments (Brown et al. 1970; Hoefsloot et al. 1988; Wisselaar et al. 1993).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10253-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-9036727", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9036727" } ] }, { "id": "R-HSA-9036729", "name": "Defective GAA does not hydrolyze lysosomal glycogen", "equation": "", "summary": "Normally, lysosomal alpha-glucosidase (GAA) catalyzes the hydrolysis of alpha(1,4) and alpha(1,6) linkages in glycogen, yielding free glucose and shortened glycogen polymers. A wide variety of GAA mutations reduce or eliminate this catalytic activity, leading to glycogen accumulation in lysosomes. The two missense mutant alleles annotated here encode GAA variants with little or no activity and are associated with the infantile form of the disease (early onset with multiple tissues involved) (Brown et al. 1970; Hermans et al. 1991; Zhong et al. 1991). The defect primarily affects skeletal and cardiac muscle, so the disease event is annotated here as a failure of processing of the muscle (GYG1) form of glycogen.", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10253-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-9036729", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9036729" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00462", "gene_name": "MANBA", "activity": [ { "ec_number": "3.2.1.25", "activity": "Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00462" } ] }, { "ec_number": "3.2.1.25", "activity": "", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00462" } ] } ] }, { "uniprot_ac": "O14672", "gene_name": "ADAM10", "activity": [ { "ec_number": "3.4.24.81", "activity": "Endopeptidase of broad specificity.", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14672" } ] }, { "ec_number": "3.4.24.81", "activity": "", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14672" } ] } ] }, { "uniprot_ac": "O43451", "gene_name": "MGAM", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "O43451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43451" } ] } ] }, { "uniprot_ac": "O95497", "gene_name": "VNN1", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine.", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95497" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95497" } ] } ] }, { "uniprot_ac": "P00749", "gene_name": "PLAU", "activity": [ { "ec_number": "3.4.21.73", "activity": "Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin.", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] }, { "ec_number": "3.4.21.73", "activity": "", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] } ] }, { "uniprot_ac": "P01111", "gene_name": "NRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] } ] }, { "uniprot_ac": "P04839", "gene_name": "CYBB", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04839" } ] } ] }, { "uniprot_ac": "P10253", "gene_name": "GAA", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] }, { "ec_number": "3.2.1.20", "activity": "", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] } ] }, { "uniprot_ac": "P10620", "gene_name": "MGST1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10620" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10620" } ] } ] }, { "uniprot_ac": "P15291", "gene_name": "B4GALT1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.275", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a neolactoside nLc4Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.22", "activity": "D-glucose + UDP-alpha-D-galactose = H(+) + lactose + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.38", "activity": "an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.90", "activity": "N-acetyl-D-glucosamine + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-N-acetyl-D-glucosamine + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] } ] }, { "uniprot_ac": "P15309", "gene_name": "ACP3", "activity": [ { "ec_number": "3.1.3.5", "activity": "a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] } ] }, { "uniprot_ac": "P23467", "gene_name": "PTPRB", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] } ] }, { "uniprot_ac": "P42785", "gene_name": "PRCP", "activity": [ { "ec_number": "3.4.16.2", "activity": "Cleavage of a -Pro-|-Xaa bond to release a C-terminal amino acid.", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42785" } ] }, { "ec_number": "3.4.16.2", "activity": "", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42785" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P49768", "gene_name": "PSEN1", "activity": [ { "ec_number": "3.4.23.-", "activity": "", "evidence": [ { "id": "P49768", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49768" } ] } ] }, { "uniprot_ac": "P51148", "gene_name": "RAB5C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51148" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51148" } ] } ] }, { "uniprot_ac": "P61224", "gene_name": "RAP1B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] } ] }, { "uniprot_ac": "P61225", "gene_name": "RAP2B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] } ] }, { "uniprot_ac": "P61586", "gene_name": "RHOA", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61586" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61586" } ] } ] }, { "uniprot_ac": "P63000", "gene_name": "RAC1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63000" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63000" } ] } ] }, { "uniprot_ac": "P78325", "gene_name": "ADAM8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P78325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78325" } ] } ] }, { "uniprot_ac": "P98196", "gene_name": "ATP11A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] } ] }, { "uniprot_ac": "Q13303", "gene_name": "KCNAB2", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q13303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13303" } ] } ] }, { "uniprot_ac": "Q13393", "gene_name": "PLD1", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphate + choline + H(+).", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] } ] }, { "uniprot_ac": "Q5T4S7", "gene_name": "UBR4", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] } ] }, { "uniprot_ac": "Q68CP4", "gene_name": "HGSNAT", "activity": [ { "ec_number": "2.3.1.78", "activity": "acetyl-CoA + alpha-D-glucosaminyl-[heparan sulfate](n) = CoA + H(+) + N-acetyl-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] }, { "ec_number": "2.3.1.78", "activity": "", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] } ] }, { "uniprot_ac": "Q86UQ4", "gene_name": "ABCA13", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q86UQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86UQ4" } ] } ] }, { "uniprot_ac": "Q8NF37", "gene_name": "LPCAT1", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.67", "activity": "1-O-alkyl-sn-glycero-3-phosphocholine + acetyl-CoA = a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.25", "activity": "1-O-(1Z-alkenyl)-sn-glycero-3-phosphocholine + an acyl-CoA = 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] } ] }, { "uniprot_ac": "Q8TF62", "gene_name": "ATP8B4", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] } ] }, { "uniprot_ac": "Q92932", "gene_name": "PTPRN2", "activity": [ { "ec_number": "3.1.3.-", "activity": "", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92932" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92932" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92932" } ] } ] }, { "uniprot_ac": "Q9Y2G3", "gene_name": "ATP11B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G3" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G3" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] } ] }, { "uniprot_ac": "Q9Y3L5", "gene_name": "RAP2C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "Q9Y3L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y3L5" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "Q9Y3L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y3L5" } ] } ] }, { "uniprot_ac": "Q9Y6X5", "gene_name": "ENPP4", "activity": [ { "ec_number": "3.6.1.29", "activity": "H2O + P(1),P(3)-bis(5'-adenosyl) triphosphate = ADP + AMP + 2 H(+).", "evidence": [ { "id": "Q9Y6X5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6X5" } ] }, { "ec_number": "3.6.1.29", "activity": "", "evidence": [ { "id": "Q9Y6X5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6X5" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 140, 233, 390, 470, 652, 882, 883, 925 ], "o_linked_sites": [ 41, 46, 52, 61, 142, 144, 149, 151, 153, 447, 465, 884 ], "snv_sites": [ 46, 61, 140, 142, 149, 151, 199, 235, 254, 270, 318, 470, 471, 472, 489, 493, 522, 654, 675, 686, 737, 780, 816, 884, 927, 931 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 140, "end_pos": 142 }, { "start_pos": 233, "end_pos": 235 }, { "start_pos": 390, "end_pos": 392 }, { "start_pos": 470, "end_pos": 472 }, { "start_pos": 652, "end_pos": 654 }, { "start_pos": 882, "end_pos": 884 }, { "start_pos": 925, "end_pos": 927 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 70 }, { "field": "total_sites", "count": 19 }, { "field": "n_linked_glycans", "count": 30 }, { "field": "n_linked_glycan_sites", "count": 15 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 62 }, { "field": "total_sites", "count": 18 }, { "field": "n_linked_glycans", "count": 30 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 37 }, { "field": "total_sites", "count": 26 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 25 }, { "field": "total_sites", "count": 20 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 97 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }