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Biophys. Res. 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Cancer Prev.", "date": "2011", "authors": "Frullanti Elisa, Berking Carola, Harbeck Nadia, J\u00e9z\u00e9quel Pascal, Haugen Aage, Mawrin Christian, Parise Orlando, Sasaki Hidefumi, Tsuchiya Norihiko, Dragani Tommaso A", "reference": { "type": "PubMed", "id": "21412156", "url": "https://pubmed.ncbi.nlm.nih.gov/21412156" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22455-1", "protein_name": "Fibroblast growth factor receptor 4", "gene_name": "FGFR4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22455", "url": "https://www.uniprot.org/uniprotkb/P22455" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21412156", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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"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" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "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:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://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 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": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "unlinked_id_list": [ "DOID:5166" ], "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P21802-1" }, { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs121913477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913477" }, { "id": "rs121913477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913477#frequency_tab" }, { "id": "rs121913477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913477" }, { "id": "18247426", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18247426" }, { "id": "8696350", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8696350" }, { "id": "rs121913477", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913477" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 372, "end_pos": 372, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121515289", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S372", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": 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"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:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": 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Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. 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"https://www.ncbi.nlm.nih.gov/snp/rs80356655#frequency_tab" }, { "id": "rs80356655", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80356655" }, { "id": "11372010", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11372010" }, { "id": "1502186", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1502186" }, { "id": "9049484", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9049484" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 228, "end_pos": 228, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "7", "chr_pos": "44147830", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T228", "disease": [ { "disease_id": "DOID:0060639", "recommended_name": { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene." }, "synonyms": [ { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "PDMI", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "PNDM", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "permanent diabetes mellitus of infancy", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "permanent neonatal diabetes mellitus 1", "description": "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PNDM1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "diabetes mellitus, permanent neonatal 1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PDMI", "description": "" }, { "id": "MIM:606176", "resource": "MIM", "url": "https://www.omim.org/entry/606176", "name": "Diabetes mellitus, permanent neonatal, 1", "description": "Diabetes mellitus, permanent neonatal, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ] }, { "disease_id": "DOID:0070216", "recommended_name": { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "familial hyperinsulinemic hypoglycemia 3", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13." }, "synonyms": [ { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "HHF3", "description": "" }, { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "hyperinsulinism due to glucokinase deficiency", "description": "" }, { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070216", "name": "hyperinsulinemic hypoglycemia due to glucokinase deficiency", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia, familial, 3", "description": "A form of diffuse hyperinsulinism due to glucokinase hyperactivity associated with a variation in the GCK gene, and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals." }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "GCK-related hyperinsulinism", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "HHF3", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "congenital glucokinase-related hyperinsulinism", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "glucokinase-related hyperinsulinemic hypoglycemia", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia familial 3", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia, familial, 3", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia, familial, type 3", "description": "" }, { "id": "MIM:602485", "resource": "MIM", "url": "https://www.omim.org/entry/602485", "name": "Hyperinsulinemic hypoglycemia, familial, 3", "description": "Hyperinsulinemic hypoglycemia, familial, 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "602485", "database": "MIM", "url": "https://www.omim.org/entry/602485" }, { "id": "0070216", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070216" } ] }, { "disease_id": "DOID:0111100", "recommended_name": { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "maturity-onset diabetes of the young type 2", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13." }, "synonyms": [ { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY glucokinase-related", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY type 2", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young type 2", "description": "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. 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This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2D", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent 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"https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "P35557-1" } ], "record_id": "pubmed.11372010", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { 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Simokawa K, Ueno H, Koda N, Fukushima Y, Akanuma Y, Yazaki Y, Kadowaki T", "reference": { "type": "PubMed", "id": "1464666", "url": "https://pubmed.ncbi.nlm.nih.gov/1464666" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35557-1", "protein_name": "Hexokinase-4", "gene_name": "GCK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35557", "url": "https://www.uniprot.org/uniprotkb/P35557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1464666", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { 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"table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase.", "journal": "Structure", "date": "2004", "authors": "Kamata K, Mitsuya M, Nishimura T, Eiki J, Nagata Y", "reference": { "type": "PubMed", "id": "15016359", "url": "https://pubmed.ncbi.nlm.nih.gov/15016359" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35557-1", "protein_name": "Hexokinase-4", "gene_name": "GCK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35557", "url": 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characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet N, Nishi S, Weber IT, Harrison RW, Pilkis SJ, Lesage S, et al.", "reference": { "type": "PubMed", "id": "1502186", "url": "https://pubmed.ncbi.nlm.nih.gov/1502186" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35557-1", "protein_name": "Hexokinase-4", "gene_name": "GCK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35557", "url": "https://www.uniprot.org/uniprotkb/P35557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs80356655", "database": "dbSNP", "url": 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"ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T228", "disease": [ { "disease_id": "DOID:0060639", "recommended_name": { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene." }, "synonyms": [ { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "PDMI", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "PNDM", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060639", "name": "permanent diabetes 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The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PNDM1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "diabetes mellitus, permanent neonatal 1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PDMI", "description": "" }, { "id": "MIM:606176", "resource": "MIM", "url": "https://www.omim.org/entry/606176", "name": "Diabetes mellitus, permanent neonatal, 1", "description": "Diabetes mellitus, permanent neonatal, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ] }, { "disease_id": "DOID:0070216", "recommended_name": { "id": 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"database": "MIM", "url": "https://www.omim.org/entry/602485" }, { "id": "0070216", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070216" } ] }, { "disease_id": "DOID:0111100", "recommended_name": { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "maturity-onset diabetes of the young type 2", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13." }, "synonyms": [ { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY glucokinase-related", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": "MODY type 2", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111100", "name": 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