{ "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", "type": "recommended", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253" } ] }, { "name": "GAA", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "IOPD", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "LOPD", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "LYAG", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] } ], "protein_names": [ { "name": "Lysosomal alpha-glucosidase", "type": "recommended", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#names_and_taxonomy" } ] }, { "name": "3.2.1.20", "type": "synonym", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#names_and_taxonomy" } ] }, { "name": "Acid maltase", "type": "synonym", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#names_and_taxonomy" } ] }, { "name": "Aglucosidase alfa", "type": "synonym", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#names_and_taxonomy" } ] }, { "name": "acid maltase", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "aglucosidase alfa", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "glucosidase alpha, acid", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "lysosomal alpha-glucosidase preproprotein", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ] }, { "name": "lysosomal alpha-glucosidase", "type": "synonym", "evidence": [ { "id": "NP_000143", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/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:14695532, PubMed:18429042, PubMed:1856189, PubMed:7717400). 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/uniprotkb/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": "Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.", "evidence": [ { "database": "UniProtKB", "id": "A0AAQ5BHE5", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE5#function" }, { "database": "UniProtKB", "id": "ARBA00045686", "url": "https://www.uniprot.org/uniprotkb/ARBA00045686#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHE2", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE2#function" }, { "database": "UniProtKB", "id": "I3L2V9", "url": "https://www.uniprot.org/uniprotkb/I3L2V9#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHD3", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHD3#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHE1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE1#function" } ] }, { "annotation": "Human fecal alpha-glucosidase activity and its relationship with gut microbiota profiles and early stages of intestinal mucosa damage.", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" }, { "database": "PubMed", "id": "38614290", "url": "https://glygen.org/publication/PubMed/38614290" } ] }, { "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": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "Pompe disease, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "alpha-1,4-glucosidase acid deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, infantile-onset", "description": "Pompe disease, infantile-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "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": "LOPD", "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": "" }, { "id": "MIM:621314", "resource": "MIM", "url": "https://www.omim.org/entry/621314", "name": "Pompe disease, late-onset", "description": "Pompe disease, late-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "0018485", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018485" }, { "id": "621314", "database": "MIM", "url": "https://www.omim.org/entry/621314" } ] } ], "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 4 filters: n-glyco-sequon-gain (SSS->NSS); n-glyco-sequon-loss (NLS->NLN); o-glyco-site-loss (S->N); glycogene of type=glycogene, glycosylhydrolase.", "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": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" 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"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", 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"https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": 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It is often fatal." }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "Pompe disease, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "alpha-1,4-glucosidase acid deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": 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"id": "rs2143825352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143825352" }, { "id": "rs2143825352", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143825352" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 52, "end_pos": 52, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80104740", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T52", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1373605004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373605004" }, { "id": "rs1373605004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1373605004#frequency_tab" }, { "id": "rs1373605004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373605004" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 531, "end_pos": 531, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DGC->NGC); glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80110980", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253" }, { "id": "rs369098202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369098202" }, { "id": "rs369098202", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369098202" }, { "id": "rs369098202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369098202#frequency_tab" }, { "id": "rs369098202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369098202" }, { "id": "rs369098202", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369098202" } ], "glycoeffect": [], "start_pos": 582, "end_pos": 582, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "17", "chr_pos": "80112090", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A582", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", 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"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: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", 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"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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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "Pompe disease, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "alpha-1,4-glucosidase acid deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, infantile-onset", "description": "Pompe disease, infantile-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs764622267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764622267" }, { "id": "rs764622267", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764622267" }, { "id": "rs764622267", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764622267#frequency_tab" }, { "id": "rs764622267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764622267" } ], "glycoeffect": [], "start_pos": 285, "end_pos": 285, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80107718", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764622267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764622267" }, { "id": "rs764622267", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764622267" }, { "id": "rs764622267", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764622267#frequency_tab" }, { "id": "rs764622267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764622267" } ], "glycoeffect": [], "start_pos": 285, "end_pos": 285, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80107718", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P285", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": 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}, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "Pompe disease, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "alpha-1,4-glucosidase acid deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, infantile-onset", "description": "Pompe disease, infantile-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253" }, { "id": "rs754449703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754449703" }, { "id": "rs754449703", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754449703" }, { "id": "rs754449703", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754449703#frequency_tab" }, { "id": "rs754449703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754449703" }, { "id": "rs754449703", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754449703" } ], "glycoeffect": [], "start_pos": 357, "end_pos": 357, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "17", "chr_pos": "80108403", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V357", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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", 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"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", 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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: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": 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"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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", 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"Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "Pompe disease, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "alpha-1,4-glucosidase acid deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, infantile-onset", "description": "Pompe disease, infantile-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs776704385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776704385" }, { "id": "rs776704385", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776704385" }, { "id": "rs776704385", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776704385#frequency_tab" }, { "id": "rs776704385", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776704385" } ], "glycoeffect": [], "start_pos": 422, "end_pos": 422, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80108766", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R422", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": 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"description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2039215098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2039215098" }, { "id": "rs2039215098", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2039215098#frequency_tab" }, { "id": "rs2039215098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2039215098" } ], "glycoeffect": [], "start_pos": 498, "end_pos": 498, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80110783", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2039215098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2039215098" }, { "id": "rs2039215098", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2039215098#frequency_tab" }, { "id": "rs2039215098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2039215098" }, { "id": "rs2510373966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510373966" } ], "glycoeffect": [], "start_pos": 498, "end_pos": 498, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80110783", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W498", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. 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"sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80110785", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W499", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": 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"MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs143491365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143491365" }, { "id": "rs143491365", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143491365" }, { "id": "rs143491365", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143491365" }, { "id": "rs143491365", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143491365#frequency_tab" }, { "id": "rs143491365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143491365" } ], "glycoeffect": [], "start_pos": 512, "end_pos": 512, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80110825", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F512", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. 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"https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, 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"MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253" } ], "glycoeffect": [], "start_pos": 64, "end_pos": 64, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "17", "chr_pos": "80104776", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G64", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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 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"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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1359573192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359573192" }, { "id": "rs1359573192", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1359573192#frequency_tab" }, { "id": "rs1359573192", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359573192" }, { "id": "rs1359573192", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1359573192" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80112935", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L650", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage 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"" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2510402131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510402131" } ], "glycoeffect": [], "start_pos": 835, "end_pos": 835, "sequence_org": "E", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80118213", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E835", "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": 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"https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. 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"https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, 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"BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253" }, { "id": "rs752421149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752421149" }, { "id": "rs752421149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752421149" }, { "id": "rs752421149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752421149#frequency_tab" }, { "id": "rs752421149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752421149" }, { "id": "rs752421149", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752421149" } ], "glycoeffect": [], "start_pos": 837, "end_pos": 837, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "17", "chr_pos": "80118220", 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"description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant 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"description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": 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"name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1567825763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567825763" }, { "id": "rs1567825763", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567825763" } ], "glycoeffect": [], "start_pos": 84, "end_pos": 84, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80104837", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V84", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139595011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139595011" }, { "id": "rs139595011", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139595011" }, { "id": "rs139595011", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139595011" }, { "id": "rs139595011", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139595011#frequency_tab" }, { "id": "rs139595011", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139595011" } ], "glycoeffect": [], "start_pos": 84, "end_pos": 84, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80104836", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "V84", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "Pompe disease, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "alpha-1,4-glucosidase acid deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, infantile-onset", "description": "Pompe disease, infantile-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ] }, { "evidence": [ { "id": "rs139595011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139595011" }, { "id": "rs139595011", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139595011" }, { "id": "rs139595011", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139595011" }, { "id": "rs139595011", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139595011#frequency_tab" }, { "id": "rs139595011", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139595011" } ], "glycoeffect": [], "start_pos": 84, "end_pos": 84, "sequence_org": "V", 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infantile-onset", "description": "Pompe disease, infantile-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs886042671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886042671" }, { "id": "rs886042671", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886042671" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 9, "end_pos": 9, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "80104611", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S9", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 516, "end_pos": 516, "sequence_org": "W", "sequence_mut": "R", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] }, { "start_pos": 518, "end_pos": 518, "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] }, { "start_pos": 518, "end_pos": 518, "sequence_org": "D", "sequence_mut": "G", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] }, { "start_pos": 518, "end_pos": 518, "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171298" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10253", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10253" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "https://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": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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 tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "https://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": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "https://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": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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: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", 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"Protein" ] }, { "id": "A0AAQ5BHD3", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHD3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHD3-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHD3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE1-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE2", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE2-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE5", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHE5-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHE5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHG9", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHG9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AAQ5BHG9-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHG9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L0S5", "url": "https://www.uniprot.org/uniprotkb/I3L0S5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L0S5-1", "url": "https://www.uniprot.org/uniprotkb/I3L0S5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L2V9", "url": "https://www.uniprot.org/uniprotkb/I3L2V9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L2V9-1", "url": "https://www.uniprot.org/uniprotkb/I3L2V9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L3L3", "url": "https://www.uniprot.org/uniprotkb/I3L3L3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L3L3-1", "url": "https://www.uniprot.org/uniprotkb/I3L3L3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10253-1", "url": "https://www.uniprot.org/uniprotkb/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": "A0AAG2UWL5-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAG2UWL5-1", "sequence": { "sequence": "XENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPA", "length": 93, "header": "tr|A0AAG2UWL5-1|A0AAG2UWL5_HUMAN Computationally mapped isoform of Alpha glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=3 CANONICAL=P10253-1" }, "locus": { "chromosome": "HG2118_PATCH", "start_pos": 137553, "end_pos": 135708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707783.1", "url": "https://www.ensembl.org/id/ENST00000707783.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516983.1", "url": "https://www.ensembl.org/id/ENSP00000516983.1" } ] } }, { "isoform_ac": "A0AAQ5BHD3-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHD3-1", "sequence": { "sequence": "MLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 645, "header": "tr|A0AAQ5BHD3-1|A0AAQ5BHD3_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80107666, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714062.1", "url": "https://www.ensembl.org/id/ENST00000714062.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519352.1", "url": "https://www.ensembl.org/id/ENSP00000519352.1" } ] } }, { "isoform_ac": "A0AAQ5BHE1-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHE1-1", "sequence": { "sequence": "MLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 685, "header": "tr|A0AAQ5BHE1-1|A0AAQ5BHE1_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80119328, "end_pos": 80107666, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714054.1", "url": "https://www.ensembl.org/id/ENST00000714054.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519344.1", "url": "https://www.ensembl.org/id/ENSP00000519344.1" } ] } }, { "isoform_ac": "A0AAQ5BHE2-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHE2-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVLDICVSLLMGEQFLVSWC", "length": 922, "header": "tr|A0AAQ5BHE2-1|A0AAQ5BHE2_HUMAN Computationally mapped isoform of Lysosomal 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": "ENST00000714055.1", "url": "https://www.ensembl.org/id/ENST00000714055.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519345.1", "url": "https://www.ensembl.org/id/ENSP00000519345.1" } ] } }, { "isoform_ac": "A0AAQ5BHE5-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHE5-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHSLCLIPESSLLPALPCW", "length": 601, "header": "tr|A0AAQ5BHE5-1|A0AAQ5BHE5_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80112516, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714056.1", "url": "https://www.ensembl.org/id/ENST00000714056.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519346.1", "url": "https://www.ensembl.org/id/ENSP00000519346.1" } ] } }, { "isoform_ac": "A0AAQ5BHG9-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#A0AAQ5BHG9-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTVGRAGAGAAARAEGARGHRHPRTSQGWGACCTTVCWALAGSGGVSRQWQRPSGSSGDTTVTGTPEGRARGSFIFMKRSKIQLTGATRCPWRPRMSTAGHRPHSTAWSSPRSPSG", "length": 296, "header": "tr|A0AAQ5BHG9-1|A0AAQ5BHG9_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": 80105860, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714061.1", "url": "https://www.ensembl.org/id/ENST00000714061.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519351.1", "url": "https://www.ensembl.org/id/ENSP00000519351.1" } ] } }, { "isoform_ac": "I3L0S5-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#I3L0S5-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPL", "length": 208, "header": "tr|I3L0S5-1|LYAG_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=1 CANONICAL=P10253-1" }, "locus": { "chromosome": "HG2118_PATCH", "start_pos": 130532, "end_pos": 129293, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707780.1", "url": "https://www.ensembl.org/id/ENST00000707780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516981.1", "url": "https://www.ensembl.org/id/ENSP00000516981.1" } ] } }, { "isoform_ac": "I3L2V9-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#I3L2V9-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPA", "length": 630, "header": "tr|I3L2V9-1|I3L2V9_HUMAN Computationally mapped isoform of Lysosomal alpha-glucosidase OS=Homo sapiens OX=9606 GN=GAA PE=1 SV=2 CANONICAL=P10253-1" }, "locus": { "chromosome": "17", "start_pos": 80112846, "end_pos": 80104587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000572080.2", "url": "https://www.ensembl.org/id/ENST00000572080.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000459972.2", "url": "https://www.ensembl.org/id/ENSP00000459972.2" } ] } }, { "isoform_ac": "I3L3L3-1", "url": "https://www.uniprot.org/uniprotkb/P10253/entry#I3L3L3-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLA", "length": 284, "header": "tr|I3L3L3-1|I3L3L3_HUMAN Computationally mapped isoform of 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": "https://www.uniprot.org/uniprotkb/P10253/entry#P10253-1", "sequence": { "sequence": "MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC", "length": 952, "header": 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Online.", "journal": "Human mutation", "date": "1998", "authors": "Beesley CE, Child AH, Yacoub MH", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/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": "Human mutation", "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/uniprotkb/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, 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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/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "11071489", "url": "https://glygen.org/publication/PubMed/11071489" } ] }, { "title": "Initial sequencing and analysis of the human genome.", "journal": "Nature", "date": "2001", "authors": "Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, Szustakowki J", "evidence": [ { "database": "UniProtKB", "id": "I3L0S5", "url": "https://www.uniprot.org/uniprotkb/I3L0S5" } ], "reference": [ { "type": "PubMed", "id": "11237011", "url": "https://glygen.org/publication/PubMed/11237011" } ] }, { "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/uniprotkb/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/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "12601120", "url": "https://glygen.org/publication/PubMed/12601120" } ] }, { "title": "Human testis specific protein: a new member of aldo-keto reductase superfamily.", "journal": "Chemico-biological interactions", "date": "2003-02-01", "authors": "Nishinaka Toru, Azuma Yutaro, Ushijima So, Miki Tsuneharu, Yabe-Nishimura Chihiro", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "12604216", "url": "https://glygen.org/publication/PubMed/12604216" } ] }, { "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/uniprotkb/P10253#ptm_processing" }, { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/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. Part A", "date": "2003", "authors": "Pittis MG, Montalvo AL, Miocic S, Martini C, Deganuto M, Candusso M, Ciana G, Bembi B", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "12923862", "url": "https://glygen.org/publication/PubMed/12923862" } ] }, { "title": "Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.", "journal": "Pediatric research", "date": "2003", "authors": "Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "12930917", "url": "https://glygen.org/publication/PubMed/12930917" } ] }, { "title": "Enzymic conversion of phosphorylase a to phosphorylase b.", "journal": "Biochimica et biophysica acta", "date": "1953", "authors": "KELLER PJ, CORI GT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "13115432", "url": "https://glygen.org/publication/PubMed/13115432" } ] }, { "title": "New GAA mutations in Japanese patients with GSDII (Pompe disease).", "journal": "Pediatric neurology", "date": "2003", "authors": "Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "14643388", "url": "https://glygen.org/publication/PubMed/14643388" } ] }, { "title": "Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.", "journal": "Human mutation", "date": "2004", "authors": "Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "14695532", "url": "https://glygen.org/publication/PubMed/14695532" } ] }, { "title": "Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.", "journal": "Molecular genetics and metabolism", "date": "2004", "authors": "Montalvo AL, Cariati R, Deganuto M, Guerci V, Garcia R, Ciana G, Bembi B, Pittis MG", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "14972326", "url": "https://glygen.org/publication/PubMed/14972326" } ] }, { "title": "Characterization of htAKR, a novel gene product in the aldo-keto reductase family specifically expressed in human testis.", "journal": "Molecular human reproduction", "date": "2004", "authors": "Azuma Y, Nishinaka T, Ushijima S, Soh J, Katsuyama M, Lu HP, Kawata M, Yabe-Nishimura C, Miki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "15118078", "url": "https://glygen.org/publication/PubMed/15118078" } ] }, { "title": "A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.", "journal": "Neuromuscular disorders : NMD", "date": "2004", "authors": "Kroos MA, Kirschner J, Gellerich FN, Hermans MM, Van Der Ploeg AT, Reuser AJ, Korinthenberg R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "15145338", "url": "https://glygen.org/publication/PubMed/15145338" } ] }, { "title": "Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Moreland RJ, Jin X, Zhang XK, Decker RW, Albee KL, Lee KL, Cauthron RD, Brewer K, Edmunds T, Canfield WM", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ], "reference": [ { "type": "PubMed", "id": "15520017", "url": "https://glygen.org/publication/PubMed/15520017" } ] }, { "title": "Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.", "journal": "Neurology", "date": "2005", "authors": "Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907944", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907944" }, { "database": "dbSNP", "id": "rs121907945", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907945" } ], "reference": [ { "type": "PubMed", "id": "15668445", "url": "https://glygen.org/publication/PubMed/15668445" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253#ptm_processing" }, { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Two clinical forms of glycogen-storage disease type II in two generations of the same family.", "journal": "Clinical genetics", "date": "2006-02", "authors": "Amartino H, Painceira D, Pomponio R J, Niizawa G, Sabio Paz V, Blanco M, Chamoles N", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "16433701", "url": "https://glygen.org/publication/PubMed/16433701" } ] }, { "title": "Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.", "journal": "American journal of human genetics", "date": "1991", "authors": "Zhong N, Martiniuk F, Tzall S, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907936", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907936" } ], "reference": [ { "type": "PubMed", "id": "1652892", "url": "https://glygen.org/publication/PubMed/1652892" } ] }, { "title": "A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2006", "authors": "Dou W, Peng C, Zheng J, Gu X, Fu L, Martiniuk F, Sheng HZ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "16782080", "url": "https://glygen.org/publication/PubMed/16782080" } ] }, { "title": "Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.", "journal": "DNA and cell biology", "date": "1991", "authors": "Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "1684505", "url": "https://glygen.org/publication/PubMed/1684505" } ] }, { "title": "Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.", "journal": "The Journal of pediatrics", "date": "2006-07", "authors": "Kishnani Priya Sunil, Nicolino Marc, Voit Thomas, Rogers R Curtis, Tsai Anne Chun-Hui, Waterson John, Herman Gail E, Amalfitano Andreas, Thurberg Beth L, Richards Susan, Davison Mark, Corzo Deyanira, Chen Y T", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "16860134", "url": "https://glygen.org/publication/PubMed/16860134" } ] }, { "title": "Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.", "journal": "Human mutation", "date": "2006", "authors": "Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "16917947", "url": "https://glygen.org/publication/PubMed/16917947" } ] }, { "title": "N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits.", "journal": "Glycobiology", "date": "2007", "authors": "Jongen SP, Gerwig GJ, Leeflang BR, Koles K, Mannesse ML, van Berkel PH, Pieper FR, Kroos MA, Reuser AJ, Zhou Q, Jin X, Zhang K, Edmunds T, Kamerling JP", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "17293352", "url": "https://glygen.org/publication/PubMed/17293352" } ] }, { "title": "Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.", "journal": "Neuromuscular disorders : NMD", "date": "2007", "authors": "Muller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmuller H, Schoser B", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "17643989", "url": "https://glygen.org/publication/PubMed/17643989" } ] }, { "title": "Integral and associated lysosomal membrane proteins.", "journal": "Traffic", "date": "2007", "authors": "Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "17897319", "url": "https://glygen.org/publication/PubMed/17897319" } ] }, { "title": "Mouse AKR1E1 is an ortholog of pig liver NADPH dependent 1,5-anhydro-D-fructose reductase.", "journal": "Bioscience, biotechnology, and biochemistry", "date": "2008", "authors": "Sakuma M, Kubota S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "18323634", "url": "https://glygen.org/publication/PubMed/18323634" } ] }, { "title": "Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.", "journal": "Human mutation", "date": "2008", "authors": "Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "18425781", "url": "https://glygen.org/publication/PubMed/18425781" } ] }, { "title": "Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.", "journal": "Human mutation", "date": "2008", "authors": "Pittis MG, Donnarumma M, Montalvo AL, Dominissini S, Kroos M, Rosano C, Stroppiano M, Bianco MG, Donati MA, Parenti G, D'Amico A, Ciana G, Di Rocco M, Reuser A, Bembi B, Filocamo M", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "18429042", "url": "https://glygen.org/publication/PubMed/18429042" } ] }, { "title": "Human lysosomal alpha-glucosidase. Characterization of the catalytic site.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Hermans MM, Kroos MA, van Beeumen J, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "1856189", "url": "https://glygen.org/publication/PubMed/1856189" } ] }, { "title": "Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907937", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907937" } ], "reference": [ { "type": "PubMed", "id": "1898413", "url": "https://glygen.org/publication/PubMed/1898413" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253#ptm_processing" }, { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.", "journal": "Journal of neurology", "date": "2009", "authors": "Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "19588081", "url": "https://glygen.org/publication/PubMed/19588081" } ] }, { "title": "Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.", "journal": "Molecular genetics and metabolism", "date": "2010", "authors": "Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "20080426", "url": "https://glygen.org/publication/PubMed/20080426" } ] }, { "title": "Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.", "journal": "Journal of child neurology", "date": "2010", "authors": "Alcantara-Ortigoza MA, Gonzalez-del Angel A, Barrientos-Rios R, Cupples C, Garrido-Garcia LM, de Leon-Bojorge B, Alva-Chaire Adel C", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "20350966", "url": "https://glygen.org/publication/PubMed/20350966" } ] }, { "title": "Peptides presented by HLA-DR molecules in synovia of patients with rheumatoid arthritis or antibiotic-refractory Lyme arthritis.", "journal": "Molecular & cellular proteomics : MCP", "date": "2011-03", "authors": "Seward Robert J, Drouin Elise E, Steere Allen C, Costello Catherine E", "evidence": [ { "database": "IEDB", "id": "152788", "url": "https://www.iedb.org/epitope/152788" } ], "reference": [ { "type": "PubMed", "id": "21081667", "url": "https://glygen.org/publication/PubMed/21081667" } ] }, { "title": "Late form of Pompe disease with glycogen storage in peripheral nerves axons.", "journal": "Journal of the neurological sciences", "date": "2011", "authors": "Fidzianska A, Lugowska A, Tylki-Szymanska A", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "21109266", "url": "https://glygen.org/publication/PubMed/21109266" } ] }, { "title": "Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.", "journal": "DNA Cell Biol.", "date": "1990", "authors": "Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "2111708", "url": "https://glygen.org/publication/PubMed/2111708" } ] }, { "title": "Specific functions of lysosomal proteases in endocytic and autophagic pathways.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Muller S, Dennemarker J, Reinheckel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "21767668", "url": "https://glygen.org/publication/PubMed/21767668" } ] }, { "title": "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower `affinity` for glycogen (GAA 2) and transient gene expression in deficient cells.", "journal": "American journal of human genetics", "date": "1990", "authors": "Martiniuk F, Bodkin M, Tzall S, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs1800299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1800299" } ], "reference": [ { "type": "PubMed", "id": "2203258", "url": "https://glygen.org/publication/PubMed/2203258" } ] }, { "title": "Magnetic bead-based hydrophilic interaction liquid chromatography for glycopeptide enrichments.", "journal": "Journal of chromatography. A", "date": "2012-02-10", "authors": "Yeh Chia-Hao, Chen Shu-Hui, Li Ding-Tzai, Lin Hong-Ping, Huang Hung-Jen, Chang Chi-I, Shih Wen-Ling, Chern Chi-Liang, Shi Fong-Ku, Hsu Jue-Liang", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "22226559", "url": "https://glygen.org/publication/PubMed/22226559" } ] }, { "title": "Mapping the T helper cell response to acid \u03b1-glucosidase in Pompe mice.", "journal": "Molecular genetics and metabolism", "date": "2012-06", "authors": "Nayak Sushrusha, Sivakumar Ramya, Cao Ou, Daniell Henry, Byrne Barry J, Herzog Roland W", "evidence": [ { "database": "IEDB", "id": "167280", "url": "https://www.iedb.org/epitope/167280" }, { "database": "IEDB", "id": "167284", "url": "https://www.iedb.org/epitope/167284" }, { "database": "IEDB", "id": "167445", "url": "https://www.iedb.org/epitope/167445" } ], "reference": [ { "type": "PubMed", "id": "22494547", "url": "https://glygen.org/publication/PubMed/22494547" } ] }, { "title": "Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.", "journal": "Human mutation", "date": "2012", "authors": "Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "22644586", "url": "https://glygen.org/publication/PubMed/22644586" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10253", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10253" }, { "database": "O-GlcNAc Atlas", "id": "P10253", "url": "https://oglcnac.org/atlas/detail/P10253" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.", "journal": "Orphanet journal of rare diseases", "date": "2012", "authors": "Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gokce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "22676651", "url": "https://glygen.org/publication/PubMed/22676651" } ] }, { "title": "Characterization of the human lysosomal alpha-glucosidase gene.", "journal": "Biochem. J.", "date": "1990", "authors": "Hoefsloot L H, Hoogeveen-Westerveld M, Reuser A J, Oostra B A", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "2268276", "url": "https://glygen.org/publication/PubMed/2268276" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Glycoproteomic analysis of the secretome of human endothelial cells.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Yin X, Bern M, Xing Q, Ho J, Viner R, Mayr M", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GlyConnect", "id": "723", "url": "https://glyconnect.expasy.org/browser/proteins/723" } ], "reference": [ { "type": "PubMed", "id": "23345538", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "title": "The human leukocyte antigen-presented ligandome of B lymphocytes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013-07", "authors": "Hassan Chopie, Kester Michel G D, de Ru Arnoud H, Hombrink Pleun, Drijfhout Jan Wouter, Nijveen Harm, Leunissen Jack A M, Heemskerk Mirjam H M, Falkenburg J H Frederik, van Veelen Peter A", "evidence": [ { "database": "IEDB", "id": "452361", "url": "https://www.iedb.org/epitope/452361" } ], "reference": [ { "type": "PubMed", "id": "23481700", "url": "https://glygen.org/publication/PubMed/23481700" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Composition of the HLA-DR-associated human thymus peptidome.", "journal": "European journal of immunology", "date": "2013-09", "authors": "Collado Javier A, Alvarez I\u00f1aki, Ciudad M Teresa, Espinosa Gabriel, Canals Francesc, Pujol-Borrell Ricardo, Carrascal Montserrat, Abian Joaqu\u00edn, Jaraquemada Dolores", "evidence": [ { "database": "IEDB", "id": "152788", "url": "https://www.iedb.org/epitope/152788" }, { "database": "IEDB", "id": "462695", "url": "https://www.iedb.org/epitope/462695" } ], "reference": [ { "type": "PubMed", "id": "23719902", "url": "https://glygen.org/publication/PubMed/23719902" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "The nature and extent of contributions by defective ribosome products to the HLA peptidome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014-04-22", "authors": "Bourdetsky Dmitry, Schmelzer Christian E H, Admon Arie", "evidence": [ { "database": "IEDB", "id": "452361", "url": "https://www.iedb.org/epitope/452361" } ], "reference": [ { "type": "PubMed", "id": "24715725", "url": "https://glygen.org/publication/PubMed/24715725" } ] }, { "title": "Different binding motifs of the celiac disease-associated HLA molecules DQ2.5, DQ2.2, and DQ7.5 revealed by relative quantitative proteomics of endogenous peptide repertoires.", "journal": "Immunogenetics", "date": "2015-02", "authors": "Bergseng Elin, D\u00f8rum Siri, Arntzen Magnus \u00d8, Nielsen Morten, Nyg\u00e5rd St\u00e5le, Buus S\u00f8ren, de Souza Gustavo A, Sollid Ludvig M", "evidence": [ { "database": "IEDB", "id": "519348", "url": "https://www.iedb.org/epitope/519348" }, { "database": "IEDB", "id": "523127", "url": "https://www.iedb.org/epitope/523127" }, { "database": "IEDB", "id": "523128", "url": "https://www.iedb.org/epitope/523128" }, { "database": "IEDB", "id": "523129", "url": "https://www.iedb.org/epitope/523129" }, { "database": "IEDB", "id": "525174", "url": "https://www.iedb.org/epitope/525174" }, { "database": "IEDB", "id": "528542", "url": "https://www.iedb.org/epitope/528542" }, { "database": "IEDB", "id": "528543", "url": "https://www.iedb.org/epitope/528543" }, { "database": "IEDB", "id": "528544", "url": "https://www.iedb.org/epitope/528544" }, { "database": "IEDB", "id": "528545", "url": "https://www.iedb.org/epitope/528545" } ], "reference": [ { "type": "PubMed", "id": "25502872", "url": "https://glygen.org/publication/PubMed/25502872" } ] }, { "title": "Naturally processed non-canonical HLA-A*02:01 presented peptides.", "journal": "The Journal of biological chemistry", "date": "2015-01-30", "authors": "Hassan Chopie, Chabrol Eric, Jahn Lorenz, Kester Michel G D, de Ru Arnoud H, Drijfhout Jan W, Rossjohn Jamie, Falkenburg J H Frederik, Heemskerk Mirjam H M, Gras Stephanie, van Veelen Peter A", "evidence": [ { "database": "IEDB", "id": "240688", "url": "https://www.iedb.org/epitope/240688" } ], "reference": [ { "type": "PubMed", "id": "25505266", "url": "https://glygen.org/publication/PubMed/25505266" } ] }, { "title": "Mass spectrometry of human leukocyte antigen class I peptidomes reveals strong effects of protein abundance and turnover on antigen presentation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015-03", "authors": "Bassani-Sternberg Michal, Pletscher-Frankild Sune, Jensen Lars Juhl, Mann Matthias", "evidence": [ { "database": "IEDB", "id": "478975", "url": "https://www.iedb.org/epitope/478975" 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DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "25681614", "url": "https://glygen.org/publication/PubMed/25681614" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "The family of glycogen phosphorylases: structure and function.", "journal": "Critical reviews in biochemistry and molecular biology", "date": "1989", "authors": "Newgard CB, Hwang PK, Fletterick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "2667896", "url": "https://glygen.org/publication/PubMed/2667896" } ] }, { "title": "High-sensitivity HLA class I peptidome analysis enables a precise definition of peptide motifs and the identification of peptides from cell lines and patients' sera.", "journal": "Proteomics", "date": "2016-05", "authors": "Ritz Danilo, Gloger Andreas, Weide Benjamin, Garbe Claus, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "478975", "url": "https://www.iedb.org/epitope/478975" }, { "database": "IEDB", "id": "602231", "url": "https://www.iedb.org/epitope/602231" }, { "database": "IEDB", "id": "614025", "url": 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"https://glygen.org/publication/PubMed/27452731" } ] }, { "title": "Mass spectrometric analysis of the HLA class I peptidome of melanoma cell lines as a promising tool for the identification of putative tumor-associated HLA epitopes.", "journal": "Cancer immunology, immunotherapy : CII", "date": "2016-11", "authors": "Gloger Andreas, Ritz Danilo, Fugmann Tim, Neri Dario", "evidence": [ { "database": "IEDB", "id": "452361", "url": "https://www.iedb.org/epitope/452361" } ], "reference": [ { "type": "PubMed", "id": "27600516", "url": "https://glygen.org/publication/PubMed/27600516" } ] }, { "title": "MHC-I peptides get out of the groove and enable a novel mechanism of HIV-1 escape.", "journal": "Nature structural & molecular biology", "date": "2017-04", "authors": "Pymm Phillip, Illing Patricia T, Ramarathinam Sri H, O'Connor Geraldine M, Hughes Victoria A, Hitchen Corinne, Price David A, Ho Bosco K, McVicar Daniel W, Brooks Andrew G, Purcell Anthony W, Rossjohn Jamie, Vivian Julian P", "evidence": [ { "database": "IEDB", "id": "594478", "url": "https://www.iedb.org/epitope/594478" }, { "database": "IEDB", "id": "596091", "url": "https://www.iedb.org/epitope/596091" }, { "database": "IEDB", "id": "600039", "url": "https://www.iedb.org/epitope/600039" }, { "database": "IEDB", "id": "600803", "url": "https://www.iedb.org/epitope/600803" }, { "database": "IEDB", "id": "602231", "url": "https://www.iedb.org/epitope/602231" }, { "database": "IEDB", "id": "602795", "url": "https://www.iedb.org/epitope/602795" }, { "database": "IEDB", "id": "603192", "url": "https://www.iedb.org/epitope/603192" }, { "database": "IEDB", "id": "603853", "url": "https://www.iedb.org/epitope/603853" } ], "reference": [ { "type": "PubMed", "id": "28218747", "url": "https://glygen.org/publication/PubMed/28218747" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry 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"reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Data-Independent Acquisition of HLA Class I Peptidomes on the Q Exactive Mass Spectrometer Platform.", "journal": "Proteomics", "date": "2017-10", "authors": "Ritz Danilo, Kinzi Jonny, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "614025", "url": "https://www.iedb.org/epitope/614025" } ], "reference": [ { "type": "PubMed", "id": "28834231", "url": "https://glygen.org/publication/PubMed/28834231" } ] }, { "title": "Unveiling the Peptide Motifs of HLA-C and HLA-G from Naturally Presented Peptides and Generation of Binding Prediction Matrices.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2017-10-15", "authors": "Di Marco Moreno, Schuster Heiko, Backert Linus, Ghosh Michael, Rammensee Hans-Georg, Stevanovi\u0107 Stefan", "evidence": [ { "database": "IEDB", "id": "698371", "url": "https://www.iedb.org/epitope/698371" 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Los Reyes-Gavil\u00e1n Clara G", "evidence": [ { "database": "RefSeq", "id": "NP_000143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000143" } ], "reference": [ { "type": "PubMed", "id": "38614290", "url": "https://glygen.org/publication/PubMed/38614290" } ] }, { "title": "Acid maltase deficiency in adults. Diagnosis and management in five cases.", "journal": "Brain : a journal of neurology", "date": "1985-12", "authors": "Trend P S, Wiles C M, Spencer G T, Morgan-Hughes J A, Lake B D, Patrick A D", "evidence": [ { "database": "dbSNP", "id": "rs28937909", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28937909" } ], "reference": [ { "type": "PubMed", "id": "3865697", "url": "https://glygen.org/publication/PubMed/3865697" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10253", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10253" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "OGA mutant aberrantly hydrolyzes O-GlcNAc modification from PDLIM7 to modulate p53 and cytoskeleton in promoting cancer cell malignancy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-06-11", "authors": "Hu Chia-Wei, Wang Ao, Fan Dacheng, Worth Matthew, Chen Zhengwei, Huang Junfeng, Xie Jinshan, Macdonald John, Li Lingjun, Jiang Jiaoyang", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P10253", "url": "https://oglcnac.org/atlas/detail/P10253" } ], "reference": [ { "type": "PubMed", "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10253", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10253" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "A pathological role of O-GlcNAcylation-driven TR11B production and function in lung adenocarcinoma.", "journal": "Developmental cell", "date": "2025-12-01", "authors": "Qiu Shiyu, Ma Lifang, Yu Keke, Xu Xin, Zhang Xiao, Yu Wenjun, Wang Kai, Tian Xiaoting, Miao Yayou, Wang Yikun, Guo Wanxin, Xue Xiangfei, Cui Jiangtao, Yu Xuewen, Kang Rui, Zhou Qianjun, Yu Yongchun, Tang Daolin, Wang Jiayi", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10253", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10253" } ], "reference": [ { "type": "PubMed", "id": "40930100", "url": "https://glygen.org/publication/PubMed/40930100" } ] }, { "title": "A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3.", "journal": "European journal of biochemistry", "date": "1974", "authors": "Quick CB, Fisher RA, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "4829444", "url": "https://glygen.org/publication/PubMed/4829444" } ] }, { "title": "Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease.", "journal": "Biochemistry", "date": "1970", "authors": "Brown BI, Brown DH, Jeffrey PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5264799", "url": "https://glygen.org/publication/PubMed/5264799" } ] }, { "title": "Correlation between subunit interactions and enzymatic activity of phosphorylase a. Method for determining equilibrium constants from initial rate measurements.", "journal": "Biochemistry", "date": "1970", "authors": "Huang CY, Graves DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5461220", "url": "https://glygen.org/publication/PubMed/5461220" } ] }, { "title": "Glycogenosis type II (acid maltase deficiency).", "journal": "Muscle Nerve", "date": "1995", "authors": "Reuser A J, Kroos M A, Hermans M M, Bijvoet A G, Verbeet M P, Van Diggelen O P, Kleijer W J, Van der Ploeg A T", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "7603530", "url": "https://glygen.org/publication/PubMed/7603530" } ] }, { "title": "Identification of a de novo point mutation resulting in infantile form of Pompe's disease.", "journal": "Biochemical and biophysical research communications", "date": "1995", "authors": "Lin CY, Shieh JJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "7695647", "url": "https://glygen.org/publication/PubMed/7695647" } ] }, { "title": "Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.", "journal": "American journal of human genetics", "date": "1995", "authors": "Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907940", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907940" }, { "database": "dbSNP", "id": "rs121907939", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907939" } ], "reference": [ { "type": "PubMed", "id": "7717400", "url": "https://glygen.org/publication/PubMed/7717400" } ] }, { "title": "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.", "journal": "American journal of human genetics", "date": "1995", "authors": "van den Berg IE, van Beurden EA, Malingre HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7847371", "url": "https://glygen.org/publication/PubMed/7847371" } ] }, { "title": "Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).", "journal": "Human mutation", "date": "1994", "authors": "Huie ML, Hirschhorn R, Chen AS, Martiniuk F, Zhong N", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "7866409", "url": "https://glygen.org/publication/PubMed/7866409" } ] }, { "title": "The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.", "journal": "Human molecular genetics", "date": "1994", "authors": "Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907942", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907942" }, { "database": "dbSNP", "id": "rs386834235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386834235" } ], "reference": [ { "type": "PubMed", "id": "7881422", "url": "https://glygen.org/publication/PubMed/7881422" } ] }, { "title": "The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "March RE, Putt W, Hollyoake M, Ives JH, Lovegrove JU, Hopkinson DA, Edwards YH, Whitehouse DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7902568", "url": "https://glygen.org/publication/PubMed/7902568" } ] }, { "title": "A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).", "journal": "Human molecular genetics", "date": "1994", "authors": "Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "7981676", "url": "https://glygen.org/publication/PubMed/7981676" } ] }, { "title": "The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.", "journal": "The Biochemical journal", "date": "1993", "authors": "Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "8094613", "url": "https://glygen.org/publication/PubMed/8094613" } ] }, { "title": "Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.", "journal": "Human mutation", "date": "1993", "authors": "Hermans MM, Kroos MA, de Graaff E, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907938", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907938" }, { "database": "dbSNP", "id": "rs28937909", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28937909" } ], "reference": [ { "type": "PubMed", "id": "8401535", "url": "https://glygen.org/publication/PubMed/8401535" } ] }, { "title": "Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Wisselaar HA, Kroos MA, Hermans MM, van Beeumen J, Reuser AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "8420990", "url": "https://glygen.org/publication/PubMed/8420990" } ] }, { "title": "Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.", "journal": "The Biochemical journal", "date": "1993", "authors": "Hermans MM, Wisselaar HA, Kroos MA, Oostra BA, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253#ptm_processing" }, { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "8435067", "url": "https://glygen.org/publication/PubMed/8435067" } ] }, { "title": "The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.", "journal": "Genomics", "date": "1993", "authors": "Hermans MM, Svetkey LP, Oostra BA, Chen YT, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "8486380", "url": "https://glygen.org/publication/PubMed/8486380" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.", "journal": "The Journal of clinical investigation", "date": "1996", "authors": "Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "8755644", "url": "https://glygen.org/publication/PubMed/8755644" } ] }, { "title": "Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.", "journal": "Human genetics", "date": "1996", "authors": "Tsunoda H, Ohshima T, Tohyama J, Sasaki M, Sakuragawa N, Martiniuk F", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907941", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907941" } ], "reference": [ { "type": "PubMed", "id": "8834250", "url": "https://glygen.org/publication/PubMed/8834250" } ] }, { "title": "Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.", "journal": "Nature genetics", "date": "1996", "authors": "Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "8896567", "url": "https://glygen.org/publication/PubMed/8896567" } ] }, { "title": "Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).", "journal": "Annals of human genetics", "date": "1996", "authors": "Huie ML, Menaker M, McAlpine PJ, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs1800309", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1800309" } ], "reference": [ { "type": "PubMed", "id": "8912788", "url": "https://glygen.org/publication/PubMed/8912788" } ] }, { "title": "Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.", "journal": "Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui", "date": "1996", "authors": "Lin C Y, Shieh J J", "evidence": [ { "database": "dbSNP", "id": "rs28940868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28940868" } ], "reference": [ { "type": "PubMed", "id": "8935410", "url": "https://glygen.org/publication/PubMed/8935410" } ] }, { "title": "Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.", "journal": "Human mutation", "date": "1997", "authors": "Kroos M A, Van der Kraan M, Van Diggelen O P, Kleijer W J, Reuser A J", "evidence": [ { "database": "dbSNP", "id": "rs386834235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386834235" } ], "reference": [ { "type": "PubMed", "id": "8990003", "url": "https://glygen.org/publication/PubMed/8990003" } ] }, { "title": "Purification and some properties of a hepatic NADPH-dependent reductase that specifically acts on 1,5-anhydro-D-fructose.", "journal": "Journal of biochemistry", "date": "1998-01", "authors": "Sakuma M, Kametani S, Akanuma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9504428", "url": "https://glygen.org/publication/PubMed/9504428" } ] }, { "title": "Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.", "journal": "Human mutation", "date": "1998", "authors": "Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "9521422", "url": "https://glygen.org/publication/PubMed/9521422" } ] }, { "title": "The African origin of the common mutation in African American patients with glycogen-storage disease type II.", "journal": "American journal of human genetics", "date": "1998-04", "authors": "Becker J A, Vlach J, Raben N, Nagaraju K, Adams E M, Hermans M M, Reuser A J, Brooks S S, Tifft C J, Hirschhorn R, Huie M L, Nicolino M, Plotz P H", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" }, { "database": "dbSNP", "id": "rs121907943", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907943" } ], "reference": [ { "type": "PubMed", "id": "9529346", "url": "https://glygen.org/publication/PubMed/9529346" } ] }, { "title": "Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/P10253" } ], "reference": [ { "type": "PubMed", "id": "9535769", "url": "https://glygen.org/publication/PubMed/9535769" } ] }, { "title": "Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.", "journal": "Human mutation", "date": "1998", "authors": "Shieh J J, Lin C Y", "evidence": [ { "database": "dbSNP", "id": "rs28940868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28940868" } ], "reference": [ { "type": "PubMed", "id": "9554747", "url": "https://glygen.org/publication/PubMed/9554747" } ] }, { "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/uniprotkb/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/www_bget?hsa:2548", "resource": "KEGG Pathway" }, { "id": "R-HSA-5357609", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5357609", "resource": "Reactome", "description": "Glycogen storage disease type II (GAA)" }, { "id": "R-HSA-6798695", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-70221", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "resource": "Reactome", "description": "Glycogen breakdown (glycogenolysis)" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8M1QKP5-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "gaa", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MAIIRCLNTFAVLTCVLLIIVYEDNTICVAFSPSKERQHSSNISYRIIKAQKYSHNVSTVPRDQCGIAVERRIDCARDRSLSRAECESRGCCYLPLPQSGLRGPPWCFYTVFYPGYKMGPMLPTERGHRAILTRSAPSYLPRDIHTLQLDVMAETQDRLHLTLKDPTSPRYEVPFVKSQSKGHKSMENPLYDVDFQPEPFGFSVRRKSNGRVLLNTTIGPLLFADQYLQLSTSLASSTVSGLGEHYTPITLDLDWSSVSLWNRDMAPHRSANLYGSHPFFLVQEGDGQAHGVFLLNSNAMEVFMQPAPALTWVTIGGILDFFIFLGPSPQSVIQQYQEVIGYPMMPPYWSLGFHLCRWGYTSTNITRTVVQLMRQAKIPLDVQWNDLDYADQRRVFTFDPQRFGDLPQMVEDFHQLGMKYVLILDPGISSASPPGSYKPFDDGLKKGVFINNSTGQILIGKVWPGPTAFPDFTNPTTQDWWMDWIKDFYNKVPVDGLWIDMNEPSNFVQGSVDGCPDSELEKPPYTPGVIGGQLNSGTLCVSAQQYLSNHYNLHNLYGLTEAIATHRALLKVKKTRPFVLSRSSFPGLGRFSAHWTGDVRSDWEQLRFSIPAVLLFGLYGIPLVGADVCGFGGDTNEELCVRWTQLGAFYPFMRNHNDRPNAPQEPYVFSQRAQDAMRMVINLRYSLLPFLYTLFHHAHTSASTVARPLFLQFPTDPDCRSIDRQFLWGSSLLISPVLEQGAVEVMAYLPPGTWYSLHNGQTYYSKGQYIVFPASLDTIIVHVRERSIIPQQAPALTTAISRKNPFTLTVGLSVGNLAKGELFWDDGESLDTFERGDYSYLLFFAEESYVVSKPIKLNGSLDGLVLGEVRVFGVQTPPTAVWANGQKVPDFSYRLDTKVLTVAGLELPMTAKITIQWS", "length": 918 }, "evidence": [ { "id": "HGNC:4065", "url": "https://alliancegenome.org/gene/HGNC:4065#orthology", "database": "AGR" }, { "id": "RGD:735227", "url": "https://alliancegenome.org/gene/RGD:735227#orthology", "database": "AGR" }, { "id": "MGI:95609", "url": "https://alliancegenome.org/gene/MGI:95609#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070212-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070212-2#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A8V1ALI6-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "GAA", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": 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"OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "P70699-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "Gaa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"HGNC:4065", "url": "https://alliancegenome.org/gene/HGNC:4065#orthology", "database": "AGR" }, { "id": "RGD:735227", "url": "https://alliancegenome.org/gene/RGD:735227#orthology", "database": "AGR" }, { "id": "MGI:95609", "url": "https://alliancegenome.org/gene/MGI:95609#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070212-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070212-2#orthology", "database": "AGR" }, { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Mouse", "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": "HGNC:4065", "url": "https://alliancegenome.org/gene/HGNC:4065#orthology", "database": "AGR" }, { "id": "RGD:735227", "url": "https://alliancegenome.org/gene/RGD:735227#orthology", "database": "AGR" }, { "id": "MGI:95609", "url": "https://alliancegenome.org/gene/MGI:95609#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070212-2", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070212-2#orthology", "database": "AGR" }, { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9LYF8-1", "protein_name": "Maltase", "gene_name": "AGLU1", "tax_id": 3702, "organism": "Arabidopsis thaliana", "sequence": { "sequence": "MSSLHWFPNIFIVVVVFFSLRSSQVVLEEEESTVVGYGYVVRSVGVDSNRQVLTAKLDLIKPSSVYAPDIKSLNLHVSLETSERLRIRITDSSQQRWEIPETVIPRAGNHSPRRFSTEEDGGNSPENNFLADPSSDLVFTLHNTTPFGFSVSRRSSGDILFDTSPDSSDSNTYFIFKDQFLQLSSALPENRSNLYGIGEHTKRSFRLIPGETMTLWNADIGSENPDVNLYGSHPFYMDVRGSKGNEEAGTTHGVLLLNSNGMDVKYEGHRITYNVIGGVIDLYVFAGPSPEMVMNQYTELIGRPAPMPYWSFGFHQCRYGYKNVSDLEYVVDGYAKAGIPLEVMWTDIDYMDGYKDFTLDPVNFPEDKMQSFVDTLHKNGQKYVLILDPGIGVDSSYGTYNRGMEADVFIKRNGEPYLGEVWPGKVYFPDFLNPAAATFWSNEIKMFQEILPLDGLWIDMNELSNFITSPLSSGSSLDDPPYKINNSGDKRPINNKTVPATSIHFGNISEYDAHNLYGLLEAKATHQAVVDITGKRPFILSRSTFVSSGKYTAHWTGDNAAKWEDLAYSIPGILNFGLFGIPMVGADICGFSHDTTEELCRRWIQLGAFYPFARDHSSLGTARQELYLWDSVASSARKVLGLRMRLLPHLYTLMYEAHVSGNPIARPLFFSFPQDTKTYEIDSQFLIGKSIMVSPALKQGAVAVDAYFPAGNWFDLFNYSFAVGGDSGKHVRLDTPADHVNVHVREGSIVAMQGEALTTRDARKTPYQLLVVASRLENISGELFLDDGENLRMGAGGGNRDWTLVKFRCYVTGKSVVLRSEVVNPEYASKMKWSIGKVTFVGFENVENVKTYEVRTSERLRSPRISLIKTVSDNDDPRFLSVEVSKLSLLVGKKFEMRLRLT", "length": 902 }, "evidence": [ { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Arabidopsis", "common_name": "Mouse-ear cress" }, { "uniprot_canonical_ac": "Q9MYM4-1", "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "GAA", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MMRWPPCSRPLLGVCTLLSLALLGHILLHDLEVVPRELRGFSQDEIHQACQPGASSPECRGSPRAAPTQCDLPPNSRFDCAPDKGITPQQCEARGCCYMPAEWPPDAQMGQPWCFFPPSYPSYRLENLTTTETGYTATLTRAVPTFFPKDIMTLRLDMLMETESRLHFTIKDPANRRYEVPLETPRVYSQAPFTLYSVEFSEEPFGVVVRRKLDGRVLLNTTVAPLFFADQFLQLSTSLPSQHITGLAEHLGSLMLSTNWTKITLWNRDIAPEPNVNLYGSHPFYLVLEDGGLAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSTSAITRQVVENMTRAYFPLDVQWNDLDYMDARRDFTFNKDHFGDFPAMVQELHQGGRRYIMIVDPAISSSGPAGTYRPYDEGLRRGVFITNETGQPLIGQVWPGLTAFPDFTNPETLDWWQDMVTEFHAQVPFDGMWIDMNEPSNFVRGSVDGCPDNSLENPPYLPGVVGGTLRAATICASSHQFLSTHYDLHNLYGLTEALASHRALVKARGMRPFVISRSTFAGHGRYSGHWTGDVWSNWEQLSYSVPEILLFNLLGVPLVGADICGFLGNTSEELCVRWTQLGAFYPFMRNHNALNSQPQEPYRFSETAQQAMRKAFTLRYVLLPYLYTLFHRAHVRGETVARPLFLEFPEDPSTWTVDRQLLWGEALLITPVLEAEKVEVTGYFPQGTWYDLQTVPMEAFGSLPPPAPLTSVIHSKGQWVTLSAPLDTINVHLRAGHIIPMQGPALTTTESRKQHMALAVALTASGEAQGELFWDDGESLGVLDGGDYTQLIFLAKNNTFVNKLVHVSSEGASLQLRNVTVLGVATAPQQVLCNSVPVSNFTFSPDTETLAIPVSLTMGEQFVISWS", "length": 937 }, "evidence": [ { "id": "P10253", "url": "https://omabrowser.org/oma/group/P10253/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "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/uniprotkb/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/uniprotkb/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/uniprotkb/P10253" } ], "pmid": "" }, { "name": "glucan 1,6-alpha-glucosidase activity", "id": "GO:0043896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043896", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/P10253" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 11, "go_terms": [ { "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/uniprotkb/P10253" } ], "pmid": "" }, { "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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/P10253" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/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/uniprotkb/P10253" } ], "pmid": "" }, { "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/uniprotkb/P10253" } ], "pmid": "" }, { "name": "disaccharide metabolic process", "id": "GO:0005984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005984", "evidence": [ { "database": "UniProtKB", "id": "P10253", "url": "https://www.uniprot.org/uniprotkb/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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/cgi-bin/entry_pro?id=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/uniprotkb/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", "O95716-1", "Q7Z6P3-1", "P49768-1", "Q86UQ4-1", "Q9Y2Q0-1", "Q9Y2G3-1", "P10253-1", "P15291-1", "O95497-1", "Q8NF37-1", "O00462-1", "P10620-1", "Q96AX2-1", "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", "P61106-1", "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/uniprotkb/O00462" } ] }, { "ec_number": "3.2.1.25", "activity": "", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/O14672" } ] }, { "ec_number": "3.4.24.81", "activity": "", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/O43451" } ] } ] }, { "uniprot_ac": "O95497", "gene_name": "VNN1", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = cysteamine + (R)-pantothenate.", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95497" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95497" } ] } ] }, { "uniprot_ac": "O95716", "gene_name": "RAB3D", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "O95716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95716" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "O95716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95716" } ] } ] }, { "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/uniprotkb/P00749" } ] }, { "ec_number": "3.4.21.73", "activity": "", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P00749" } ] } ] }, { "uniprot_ac": "P01111", "gene_name": "NRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01111" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P01111" } ] } ] }, { "uniprot_ac": "P04839", "gene_name": "CYBB", "activity": [ { "ec_number": "1.6.3.-", "activity": "", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/P10253" } ] }, { "ec_number": "3.2.1.20", "activity": "", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10253" } ] } ] }, { "uniprot_ac": "P10620", "gene_name": "MGST1", "activity": [ { "ec_number": "2.5.1.18", "activity": "RX + glutathione = an S-substituted glutathione + a halide anion + H(+).", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10620" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10620" } ] } ] }, { "uniprot_ac": "P15291", "gene_name": "B4GALT1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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)) + UDP + H(+).", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15291" } ] }, { "ec_number": "2.4.1.22", "activity": "D-glucose + UDP-alpha-D-galactose = lactose + UDP + H(+).", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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 + UDP + H(+).", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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 + UDP + H(+).", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/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/uniprotkb/P15309" } ] }, { "ec_number": "3.1.3.48", "activity": "O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15309" } ] } ] }, { "uniprot_ac": "P23467", "gene_name": "PTPRB", "activity": [ { "ec_number": "3.1.3.48", "activity": "O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23467" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/P42785" } ] }, { "ec_number": "3.4.16.2", "activity": "", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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] + UDP + H(+).", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P46976" } ] } ] }, { "uniprot_ac": "P49768", "gene_name": "PSEN1", "activity": [ { "ec_number": "3.4.23.-", "activity": "", "evidence": [ { "id": "P49768", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P49768" } ] } ] }, { "uniprot_ac": "P51148", "gene_name": "RAB5C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P51148" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P51148" } ] } ] }, { "uniprot_ac": "P61106", "gene_name": "RAB14", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P61106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61106" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61106" } ] } ] }, { "uniprot_ac": "P61224", "gene_name": "RAP1B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61224" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61224" } ] } ] }, { "uniprot_ac": "P61225", "gene_name": "RAP2B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61225" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61225" } ] } ] }, { "uniprot_ac": "P61586", "gene_name": "RHOA", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61586" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P61586" } ] } ] }, { "uniprot_ac": "P63000", "gene_name": "RAC1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P63000" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P63000" } ] } ] }, { "uniprot_ac": "P78325", "gene_name": "ADAM8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P78325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/P98196" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98196" } ] } ] }, { "uniprot_ac": "Q13303", "gene_name": "KCNAB2", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q13303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13303" } ] } ] }, { "uniprot_ac": "Q13393", "gene_name": "PLD1", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + H2O = 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphate + ethanolamine + H(+).", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13393" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/Q5T4S7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5T4S7" } ] } ] }, { "uniprot_ac": "Q68CP4", "gene_name": "HGSNAT", "activity": [ { "ec_number": "2.3.1.78", "activity": "alpha-D-glucosaminyl-[heparan sulfate](n) + acetyl-CoA = N-acetyl-alpha-D-glucosaminyl-[heparan sulfate](n) + CoA + H(+).", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68CP4" } ] }, { "ec_number": "2.3.1.78", "activity": "", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68CP4" } ] } ] }, { "uniprot_ac": "Q7Z6P3", "gene_name": "RAB44", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + H(+).", "evidence": [ { "id": "Q7Z6P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7Z6P3" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "Q7Z6P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7Z6P3" } ] } ] }, { "uniprot_ac": "Q86UQ4", "gene_name": "ABCA13", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q86UQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/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/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.67", "activity": "a 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/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.25", "activity": "a 1-O-(1Z-alkenyl)-sn-glycero-3-phosphocholine + an acyl-CoA = a 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.25", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.67", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NF37" } ] }, { "ec_number": "2.3.1.51", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/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/uniprotkb/Q8TF62" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8TF62" } ] } ] }, { "uniprot_ac": "Q92932", "gene_name": "PTPRN2", "activity": [ { "ec_number": "3.1.3.-", "activity": "", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92932" } ] }, { "ec_number": "3.1.3.48", "activity": "O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92932" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "Q92932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q92932" } ] } ] }, { "uniprot_ac": "Q96AX2", "gene_name": "RAB37", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + phosphate + 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