{ "title": "Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).", "journal": "Nature genetics", "date": "1999", "authors": "den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA", "reference": { "type": "PubMed", "id": "10508521", "url": "https://pubmed.ncbi.nlm.nih.gov/10508521" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P82279-1", "protein_name": "Protein crumbs homolog 1", "gene_name": "CRB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P82279", "url": "https://www.uniprot.org/uniprot/P82279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P82279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P82279" }, { "id": "rs28939720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28939720" }, { "id": "rs28939720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28939720" }, { "id": "rs28939720", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28939720" }, { "id": "rs28939720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28939720#frequency_tab" }, { "id": "rs28939720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28939720" }, { "id": "10508521", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10508521" }, { "id": "16959974", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16959974" }, { "id": "22810696", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22810696" }, { "id": "23525077", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23525077" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 745, "end_pos": 745, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).", "chr_id": "1", "chr_pos": "197427559", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T745", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"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, 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}, { "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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:0110079", "recommended_name": { "id": "DOID:0110079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110079", "name": "Leber congenital amaurosis 8", "description": "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32." }, "synonyms": [ { "id": "DOID:0110079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110079", "name": "LCA8", "description": "" }, { "id": "MONDO:0013453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013453", "name": "Leber congenital amaurosis 8", "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." }, { "id": "MONDO:0013453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013453", "name": "CRB1 Leber congenital amaurosis", "description": "" }, { "id": "MONDO:0013453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013453", "name": "LCA8", "description": "" }, { "id": "MONDO:0013453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013453", "name": "Leber congenital amaurosis 8", "description": "" }, { "id": "MONDO:0013453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013453", "name": "Leber congenital amaurosis caused by mutation in CRB1", "description": "" }, { "id": "MONDO:0013453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013453", "name": "Leber congenital amaurosis type 8", "description": "" }, { "id": "MIM:613835", "resource": "MIM", "url": "https://www.omim.org/entry/613835", "name": "Leber congenital amaurosis 8", "description": "Leber congenital amaurosis 8" } ] }, { "disease_id": "DOID:0111541", "recommended_name": { "id": "DOID:0111541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111541", "name": "pigmented paravenous chorioretinal atrophy", "description": "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3." }, "synonyms": [ { "id": "DOID:0111541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111541", "name": "PPRCA", "description": "" }, { "id": "MONDO:0008246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008246", "name": "pigmented paravenous retinochoroidal atrophy", "description": "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." }, { "id": "MONDO:0008246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008246", "name": "PPRCA", "description": "" }, { "id": "MONDO:0008246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008246", "name": "PPCRA", "description": "" }, { "id": "MONDO:0008246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008246", "name": "pigmented paravenous chorioretinal atrophy", "description": "" }, { "id": "MIM:172870", "resource": "MIM", "url": "https://www.omim.org/entry/172870", "name": "Pigmented paravenous chorioretinal atrophy", "description": "Pigmented paravenous chorioretinal atrophy" } ] }, { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ] }, { "disease_id": "DOID:0110358", "recommended_name": { "id": "DOID:0110358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110358", "name": "retinitis pigmentosa 12", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3." }, "synonyms": [ { "id": "DOID:0110358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110358", "name": "RP12", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "retinitis pigmentosa 12", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "CRB1 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "RP12", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "retinitis pigmentosa 12", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "retinitis pigmentosa caused by mutation in CRB1", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "retinitis pigmentosa type 12", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "retinitis pigmentosa-12", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "RP 12", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "RP with or without Pprpe", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "RP with or without preserved Paraarteriole retinal pigment epithelium", "description": "" }, { "id": "MONDO:0010818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010818", "name": "retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium", "description": "" }, { "id": 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