{ "uniprot_canonical_ac": "P12830-1", "uniprot_ac": "P12830", "uniprot_id": "CADH1_HUMAN", "mass": { "chemical_mass": 97456.0, "monoisotopic_mass": 97456.0 }, "refseq": { "ac": "NP_001304113", "name": "cadherin-1 isoform 2 precursor", "summary": "This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113" }, "gene_names": [ { "name": "CDH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12830", "id": "P12830" }, { "name": "Arc-1; BCDS1; CD324; CDHE; ECAD; LCAM; UVO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113", "id": "NP_001304113" }, { "name": "CDH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113", "id": "NP_001304113" }, { "name": "CDHE", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12830", "id": "P12830" }, { "name": "UVO", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12830", "id": "P12830" } ], "protein_names": [ { "name": "Cadherin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12830" }, { "name": "CAM 120/80", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12830" }, { "name": "E-cadherin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12830" }, { "name": "Epithelial cadherin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12830" }, { "name": "Uvomorulin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12830" }, { "name": "cadherin-1 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113", "id": "NP_001304113" }, { "name": "calcium-dependent adhesion protein, epithelial; cadherin 1, E-cadherin (epithelial); cell-CAM 120/80; uvomorulin; epithelial cadherin; cadherin 1, type 1, E-cadherin (epithelial); E-cadherin 1; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113", "id": "NP_001304113" } ], "function": [ { "annotation": "(Microbial infection) Serves as a receptor for Listeria monocytogenes; internalin A (InlA) binds to this protein and promotes uptake of the bacteria.", "evidence": [ { "database": "UniProtKB", "id": "P12830", "url": "https://www.uniprot.org/uniprot/P12830#function" }, { "database": "PubMed", "id": "10406800", "url": "https://glygen.org/publication/PubMed/10406800" }, { "database": "PubMed", "id": "17540170", "url": "https://glygen.org/publication/PubMed/17540170" }, { "database": "PubMed", "id": "8601315", "url": "https://glygen.org/publication/PubMed/8601315" } ] }, { "annotation": "Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7.", "evidence": [ { "database": "UniProtKB", "id": "P12830", "url": "https://www.uniprot.org/uniprot/P12830#function" }, { "database": "PubMed", "id": "16417575", "url": "https://glygen.org/publication/PubMed/16417575" }, { "database": "PubMed", "id": "11976333", "url": "https://glygen.org/publication/PubMed/11976333" } ] }, { "annotation": "E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production.", "evidence": [ { "database": "UniProtKB", "id": "P12830", "url": "https://www.uniprot.org/uniprot/P12830#function" }, { "database": "PubMed", "id": "16417575", "url": "https://glygen.org/publication/PubMed/16417575" } ] }, { "annotation": "Host-Cell-Dependent Roles of E-Cadherin in Serratia Invasion. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001304113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113" }, { "database": "PubMed", "id": "38069398", "url": "https://glygen.org/publication/PubMed/38069398" } ] }, { "annotation": "MGRN1 depletion promotes intercellular adhesion in melanoma by upregulation of E-cadherin and inhibition of CDC42.", "evidence": [ { "database": "RefSeq", "id": "NP_001304113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113" }, { "database": "PubMed", "id": "38008393", "url": "https://glygen.org/publication/PubMed/38008393" } ] }, { "annotation": "Prostaglandin E2 Exposure Disrupts E-Cadherin/Caveolin-1-Mediated Tumor Suppression to Favor Caveolin-1-Enhanced Migration, Invasion, and Metastasis in Melanoma Models. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001304113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113" }, { "database": "PubMed", "id": "38069269", "url": "https://glygen.org/publication/PubMed/38069269" } ] }, { "annotation": "Tag, you're it: G-ICAT identifies p120-cysteine glutathionylation triggering E-cadherin destabilization.", "evidence": [ { "database": "RefSeq", "id": "NP_001304113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113" }, { "database": "PubMed", "id": "38134879", "url": "https://glygen.org/publication/PubMed/38134879" } ] }, { "annotation": "This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001304113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304113" } ] } ], "disease": [ { "disease_id": "DOID:0080344", "recommended_name": { "id": "DOID:0080344", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080344", "name": "blepharocheilodontic syndrome", "description": "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth." }, "synonyms": [ { "id": "DOID:0080344", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080344", "name": "Blepharo-cheilo-odontic syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharocheilodontic syndrome 1", "description": "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene." }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "CDH1 blepharo-cheilo-odontic syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharo-cheilo-odontic syndrome caused by mutation in CDH1", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharocheilodontic syndrome 1", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "BCD syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "BCDS1", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "Lagophthalmia with bilateral cleft 51P and palate", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharocheilodontic syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "clefting, ectropion, and conical teeth", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "ectropion, Inferior, with cleft 51P and/Or palate", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "elschnig syndrome", "description": "" }, { "id": "MIM:119580", "resource": "MIM", "url": "https://www.omim.org/entry/119580", "name": "Blepharocheilodontic syndrome 1", "description": "Blepharocheilodontic syndrome 1" } ], "evidence": [ { "id": "119580", "database": "MIM", "url": "https://www.omim.org/entry/119580" } ] }, { "disease_id": "DOID:0080345", "recommended_name": { "id": "DOID:0080345", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080345", "name": "blepharocheilodontic syndrome 1", "description": "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22." }, "synonyms": [ { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharocheilodontic syndrome 1", "description": "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene." }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "CDH1 blepharo-cheilo-odontic syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharo-cheilo-odontic syndrome caused by mutation in CDH1", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharocheilodontic syndrome 1", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "BCD syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "BCDS1", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "Lagophthalmia with bilateral cleft 51P and palate", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharocheilodontic syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "clefting, ectropion, and conical teeth", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "ectropion, Inferior, with cleft 51P and/Or palate", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "elschnig syndrome", "description": "" }, { "id": "MIM:119580", "resource": "MIM", "url": "https://www.omim.org/entry/119580", "name": "Blepharocheilodontic syndrome 1", "description": "Blepharocheilodontic syndrome 1" } ], "evidence": [ { "id": "119580", "database": "MIM", "url": "https://www.omim.org/entry/119580" } ] }, { "disease_id": "DOID:0080764", "recommended_name": { "id": "DOID:0080764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080764", "name": "hereditary diffuse gastric cancer", "description": "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes." }, "synonyms": [ { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "CDH1-related diffuse gastric and lobular breast cancer syndrome", "description": "Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women." }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "DGLBC", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "HDGC", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "LBC", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "diffuse gastric and lobular breast cancer syndrome", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "gastric cancer, familial diffuse breast cancer, lobular", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "gastric cancer, hereditary diffuse", "description": "" }, { "id": "MIM:137215", "resource": "MIM", "url": "https://www.omim.org/entry/137215", "name": "Diffuse gastric and lobular breast cancer syndrome", "description": "Diffuse gastric and lobular breast cancer syndrome" } ], "evidence": [ { "id": "137215", "database": "MIM", "url": "https://www.omim.org/entry/137215" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial Ca", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "evidence": [ { "id": "608089", "database": "MIM", "url": "https://www.omim.org/entry/608089" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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"description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "BCD syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "BCDS1", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "Lagophthalmia with bilateral cleft 51P and palate", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "blepharocheilodontic syndrome", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "clefting, ectropion, and conical teeth", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "ectropion, Inferior, with cleft 51P and/Or palate", "description": "" }, { "id": "MONDO:0054740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054740", "name": "elschnig syndrome", "description": "" }, { "id": "MIM:119580", "resource": "MIM", "url": "https://www.omim.org/entry/119580", "name": "Blepharocheilodontic syndrome 1", "description": "Blepharocheilodontic syndrome 1" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial Ca", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:0080764", "recommended_name": { "id": "DOID:0080764", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080764", "name": "hereditary diffuse gastric cancer", "description": "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes." }, "synonyms": [ { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "CDH1-related diffuse gastric and lobular breast cancer syndrome", "description": "Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women." }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "DGLBC", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "HDGC", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "LBC", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "diffuse gastric and lobular breast cancer syndrome", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "gastric cancer, familial diffuse breast cancer, lobular", "description": "" }, { "id": "MONDO:0100488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100488", "name": "gastric cancer, hereditary diffuse", "description": "" }, { "id": "MIM:137215", "resource": "MIM", "url": "https://www.omim.org/entry/137215", "name": "Diffuse gastric and lobular breast cancer syndrome", "description": "Diffuse gastric and lobular breast cancer syndrome" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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: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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", 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"https://www.ncbi.nlm.nih.gov/protein/NP_001304113", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P12830", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "H3BNC6", "url": "https://www.uniprot.org/uniprot/H3BNC6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNC6-1", "url": "https://www.uniprot.org/uniprot/H3BNC6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVI7", "url": "https://www.uniprot.org/uniprot/H3BVI7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVI7-1", "url": "https://www.uniprot.org/uniprot/H3BVI7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QKP1", "url": "https://www.uniprot.org/uniprot/J3QKP1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QKP1-1", "url": "https://www.uniprot.org/uniprot/J3QKP1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12830", "url": "https://www.uniprot.org/uniprot/P12830", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12830-1", "url": "https://www.uniprot.org/uniprot/P12830-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12830-2", "url": "https://www.uniprot.org/uniprot/P12830-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTDGVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPPISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGNAVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTINRNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTDADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDVNEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGEDD", "length": 882, "header": "sp|P12830-1|CADH1_HUMAN Isoform 1 of Cadherin-1 OS=Homo sapiens OX=9606 GN=CDH1 PE=1 SV=3 CANONICAL=P12830-1" }, "isoforms": [ { "isoform_ac": "H3BNC6-1", "url": "", "sequence": { "sequence": "MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTDGVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPPISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGNAVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTINRNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTDADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDVNEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITFSSCYWNRDTSADPV", "length": 537, "header": "tr|H3BNC6-1|H3BNC6_HUMAN Computationally mapped isoform of Cadherin 1 OS=Homo sapiens OX=9606 GN=CDH1 PE=1 SV=1 CANONICAL=P12830-1" }, "locus": { "chromosome": "16", "start_pos": 68822046, "end_pos": 68737416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566612.5", "url": "https://www.ensembl.org/id/ENST00000566612.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454782.1", "url": "https://www.ensembl.org/id/ENSP00000454782.1" } ] } }, { "isoform_ac": "H3BVI7-1", "url": "", "sequence": { "sequence": "MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTDGVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPPISCPENEKGPFPKNLVQLFSHAVSSNGNAVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTINRNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTDADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKVCMVPGKMQKLASSQLFIPLSPGLGF", "length": 414, "header": "tr|H3BVI7-1|H3BVI7_HUMAN Computationally mapped isoform of Cadherin 1 OS=Homo sapiens OX=9606 GN=CDH1 PE=1 SV=1 CANONICAL=P12830-1" }, "locus": { "chromosome": "16", "start_pos": 68815525, "end_pos": 68737416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566510.5", "url": "https://www.ensembl.org/id/ENST00000566510.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458139.1", "url": "https://www.ensembl.org/id/ENSP00000458139.1" } ] } }, { "isoform_ac": "J3QKP1-1", "url": "", "sequence": { "sequence": "XTDGVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPPISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTEPL", "length": 155, "header": "tr|J3QKP1-1|J3QKP1_HUMAN Computationally mapped isoform of Cadherin 1 OS=Homo sapiens OX=9606 GN=CDH1 PE=1 SV=1 CANONICAL=P12830-1" }, "locus": { "chromosome": "16", "start_pos": 68811694, "end_pos": 68801740, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561751.1", "url": "https://www.ensembl.org/id/ENST00000561751.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463170.1", "url": "https://www.ensembl.org/id/ENSP00000463170.1" } ] } }, { "isoform_ac": "P12830-1", "url": "", "sequence": { "sequence": "MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTDGVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPPISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGNAVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTINRNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTDADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDVNEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGEDD", "length": 882, "header": "sp|P12830-1|CADH1_HUMAN Isoform 1 of Cadherin-1 OS=Homo sapiens OX=9606 GN=CDH1 PE=1 SV=3 CANONICAL=P12830-1" }, "locus": { "chromosome": "16", "start_pos": 68833496, "end_pos": 68737416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261769.10", "url": "https://www.ensembl.org/id/ENST00000261769.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000261769.4", "url": "https://www.ensembl.org/id/ENSP00000261769.4" } ] } }, { "isoform_ac": "P12830-2", "url": "", "sequence": { "sequence": "MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTDGVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPPISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGNAVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTINRNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDVNEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGEDD", "length": 821, "header": "sp|P12830-2|CADH1_HUMAN Isoform 2 of Cadherin-1 OS=Homo sapiens OX=9606 GN=CDH1 PE=1 SV=3 CANONICAL=P12830-1" }, "locus": { "chromosome": "16", "start_pos": 68833496, "end_pos": 68737416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422392.6", "url": "https://www.ensembl.org/id/ENST00000422392.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000414946.2", "url": "https://www.ensembl.org/id/ENSP00000414946.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 217, "start_aa": "Thr", "end_pos": 217, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr217", "evidence": [ { "id": "P12830", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (Man...) serine O-mannosylation", "start_pos": 280, "start_aa": "Ser", "end_pos": 280, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser280", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (Man...) threonine O-mannosylation", "start_pos": 285, "start_aa": "Thr", "end_pos": 285, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr285", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (Man...) threonine O-mannosylation", "start_pos": 358, "start_aa": "Thr", "end_pos": 358, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr358", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (Man...) threonine O-mannosylation", "start_pos": 470, "start_aa": "Thr", "end_pos": 470, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr470", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (Man...) threonine O-mannosylation", "start_pos": 472, "start_aa": "Thr", "end_pos": 472, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr472", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (Man...) threonine O-mannosylation", "start_pos": 509, "start_aa": "Thr", "end_pos": 509, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr509", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 544, "start_aa": "Thr", "end_pos": 544, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr544", "evidence": [ { "id": "P12830", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 558, "start_aa": "Asn", "end_pos": 558, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn558", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" }, { "id": "18491227", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18491227" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 570, "start_aa": "Asn", "end_pos": 570, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn570", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" }, { "id": "18491227", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18491227" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (Man...) threonine O-mannosylation", "start_pos": 576, "start_aa": "Thr", "end_pos": 576, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr576", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (Man...) threonine O-mannosylation", "start_pos": 578, "start_aa": "Thr", "end_pos": 578, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr578", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-mannosylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (Man...) threonine O-mannosylation", "start_pos": 580, "start_aa": "Thr", "end_pos": 580, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr580", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 622, "start_aa": "Asn", "end_pos": 622, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn622", "evidence": [ { "id": "P12830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12830#ptm_processing" }, { "id": "18491227", "database": "PubMed", "url": 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The gamma-secretase-mediated cleavage promotes disassembly of adherens junctions (PubMed:11953314). During development of the cochlear organ of Corti, cleavage by ADAM10 at adherens junctions promotes pillar cell separation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P12830", "url": "https://www.uniprot.org/uniprot/P12830" }, { "database": "PubMed", "id": "10597309", "url": "https://glygen.org/publication/PubMed/10597309" }, { "database": "PubMed", "id": "11953314", "url": "https://glygen.org/publication/PubMed/11953314" }, { "database": "PubMed", "id": "11076937", "url": "https://glygen.org/publication/PubMed/11076937" } ] }, { "annotation": "N-glycosylation at Asn-637 is essential for expression, folding and trafficking. 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"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": 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"url": "https://glygen.org/publication/PubMed/29572027" } ], "instances": [ { "best_biomarker_type": "diagnostic", "status": "increased CA125, HE4, E-CAD, IL-6 level", "disease": { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": 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