{ "uniprot_canonical_ac": "P23942-1", "uniprot_ac": "P23942", "uniprot_id": "PRPH2_HUMAN", "mass": { "chemical_mass": 39272.0, "monoisotopic_mass": 39272.0 }, "refseq": { "ac": "NP_000313", "name": "peripherin-2", "summary": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" }, "gene_names": [ { "name": "PRPH2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P23942", "id": "P23942" }, { "name": "AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2; RDS; RP7; TSPAN22", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313", "id": "NP_000313" }, { "name": "PRPH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313", "id": "NP_000313" }, { "name": "PRPH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P23942", "id": "P23942" }, { "name": "RDS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P23942", "id": "P23942" }, { "name": "TSPAN22", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P23942", "id": "P23942" } ], "protein_names": [ { "name": "Peripherin-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P23942" }, { "name": "Retinal degeneration slow protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P23942" }, { "name": "Tetraspanin-22", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P23942" }, { "name": "Tspan-22", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P23942" }, { "name": "peripherin-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313", "id": "NP_000313" }, { "name": "retinal peripherin; peripherin, photoreceptor type; peripherin 2, homolog of mouse; tetraspanin-22; tspan-22; retinal degeneration slow protein; peripherin 2 (retinal degeneration, slow); choroidal dystrophy, central areolar 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313", "id": "NP_000313" } ], "function": [ { "annotation": "Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" }, { "database": "PubMed", "id": "37164409", "url": "https://glygen.org/publication/PubMed/37164409" } ] }, { "annotation": "Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942#function" }, { "database": "UniProtKB", "id": "P15499", "url": "https://www.uniprot.org/uniprot/P15499#function" } ] }, { "annotation": "New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" }, { "database": "PubMed", "id": "37047703", "url": "https://glygen.org/publication/PubMed/37047703" } ] }, { "annotation": "PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" }, { "database": "PubMed", "id": "36088804", "url": "https://glygen.org/publication/PubMed/36088804" } ] }, { "annotation": "PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" }, { "database": "PubMed", "id": "36563963", "url": "https://glygen.org/publication/PubMed/36563963" } ] }, { "annotation": "The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" } ] } ], "disease": [ { "disease_id": "DOID:0050661", "recommended_name": { "id": "DOID:0050661", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050661", "name": "vitelliform macular dystrophy", "description": "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss." }, "synonyms": [ { "id": "DOID:0050661", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050661", "name": "Best disease", "description": "" }, { "id": "DOID:0050661", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050661", "name": "Best macular dystrophy", "description": "" }, { "id": "DOID:0050661", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050661", "name": "juvenile-onset vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "vitelliform macular dystrophy 4", "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "IMPG1 vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "macular dystrophy, vitelliform, 4", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "macular dystrophy, vitelliform, type 4", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "vitelliform macular dystrophy caused by mutation in IMPG1", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "VMD4", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "vitelliform macular dystrophy 1", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "VMD1", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "macular dystrophy, atypical vitelliform", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "macular dystrophy, vitelliform, 1", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "vitelliform macular dystrophy, atypical", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy 2", "description": "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "BEST1 retinopathy", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "BMD", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "BVMD", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "Best disease", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "Best macular dystrophy", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "early-onset vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "juvenile-onset vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "macular degeneration, polymorphic vitelline", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "macular dystrophy, vitelliform, type 2", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "polymorphic vitelline macular degeneration", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy type 2", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy, early-onset", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy, juvenile-onset", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy, type 2", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "Best vitelliform macular dystrophy, multifocal", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "VMD2", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "macular Degeneration, polymorphic vitelline", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "macular dystrophy, vitelliform, 2", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "vitelliform macular dystrophy 3", "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "PRPH2 vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "vitelliform macular dystrophy caused by mutation in PRPH2", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "VMD3", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "foveomacular dystrophy, adult-onset", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "macular dystrophy, vitelliform, 3", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "vitelliform macular dystrophy, adult-onset", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "vitelliform macular dystrophy 5", "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene." }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "IMPG2 vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "macular dystrophy, vitelliform, 5", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "macular dystrophy, vitelliform, type 5", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "vitelliform macular dystrophy caused by mutation in IMPG2", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "VMD5", "description": "" }, { "id": "MIM:616151", "resource": "MIM", "url": "https://www.omim.org/entry/616151", "name": "Macular dystrophy, vitelliform, 4", "description": "Macular dystrophy, vitelliform, 4" }, { "id": "MIM:153700", "resource": "MIM", "url": "https://www.omim.org/entry/153700", "name": "Macular dystrophy, vitelliform, 2", "description": "Macular dystrophy, vitelliform, 2" }, { "id": "MIM:608161", "resource": "MIM", "url": "https://www.omim.org/entry/608161", "name": "Macular dystrophy, vitelliform, 3", "description": "Macular dystrophy, vitelliform, 3" }, { "id": "MIM:616152", "resource": "MIM", "url": "https://www.omim.org/entry/616152", "name": "Macular dystrophy, vitelliform, 5", "description": "Macular dystrophy, vitelliform, 5" } ], "evidence": [ { "id": "608161", "database": "MIM", "url": "https://www.omim.org/entry/608161" } ] }, { "disease_id": "DOID:0060863", "recommended_name": { "id": "DOID:0060863", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060863", "name": "patterned macular dystrophy", "description": "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." }, "synonyms": [ { "id": "DOID:0060863", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060863", "name": "patterned dystrophy of retinal pigment epithelium", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "patterned macular dystrophy 1", "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "MDPT1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "PRPH2 patterned macular dystrophy", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "butterfly-shaped pigmentary maculary dystrophy 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "macular dystrophy, butterfly-shaped pigmentary", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "macular dystrophy, patterned, type 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "patterned macular dystrophy caused by mutation in PRPH2", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "patterned macular dystrophy type 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "butterfly dystrophy of retinal pigment epithelium", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "butterfly-shaped pigment dystrophy of the fovea", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "macular dystrophy, butterfly-Shaped pigmentary", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "macular dystrophy, patterned, 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "patterned dystrophy of retinal pigment epithelium", "description": "" }, { "id": "MIM:169150", "resource": "MIM", "url": "https://www.omim.org/entry/169150", "name": "Macular dystrophy, patterned, 1", "description": "Macular dystrophy, patterned, 1" } ], "evidence": [ { "id": "169150", "database": "MIM", "url": "https://www.omim.org/entry/169150" } ] }, { "disease_id": "DOID:0060866", "recommended_name": { "id": "DOID:0060866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060866", "name": "patterned macular dystrophy 1", "description": "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0060866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060866", "name": "MDPT1", "description": "" }, { "id": "DOID:0060866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060866", "name": "butterfly-shaped pigmentary maculary dystrophy 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "patterned macular dystrophy 1", "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "MDPT1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "PRPH2 patterned macular dystrophy", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "butterfly-shaped pigmentary maculary dystrophy 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "macular dystrophy, butterfly-shaped pigmentary", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "macular dystrophy, patterned, type 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "patterned macular dystrophy caused by mutation in PRPH2", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "patterned macular dystrophy type 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "butterfly dystrophy of retinal pigment epithelium", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "butterfly-shaped pigment dystrophy of the fovea", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "macular dystrophy, butterfly-Shaped pigmentary", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "macular dystrophy, patterned, 1", "description": "" }, { "id": "MONDO:0008210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008210", "name": "patterned dystrophy of retinal pigment epithelium", "description": "" }, { "id": "MIM:169150", "resource": "MIM", "url": "https://www.omim.org/entry/169150", "name": "Macular dystrophy, patterned, 1", "description": "Macular dystrophy, patterned, 1" } ], "evidence": [ { "id": "169150", "database": "MIM", "url": "https://www.omim.org/entry/169150" } ] }, { "disease_id": "DOID:0110383", "recommended_name": { "id": "DOID:0110383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110383", "name": "retinitis pigmentosa 7", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0110383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110383", "name": "RP7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7", "description": "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "RP7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7 and digenic form, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa type 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "Leber congenital amaurosis 18", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "RP 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7, digenic", "description": "" }, { "id": "MIM:608133", "resource": "MIM", "url": "https://www.omim.org/entry/608133", "name": "Retinitis pigmentosa 7", "description": "Retinitis pigmentosa 7" } ], "evidence": [ { "id": "608133", "database": "MIM", "url": "https://www.omim.org/entry/608133" } ] }, { "disease_id": "DOID:11105", "recommended_name": { "id": "DOID:11105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11105", "name": "fundus albipunctatus", "description": "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement." }, "synonyms": [ { "id": "DOID:11105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11105", "name": "Pigmentary retinal dystrophy", "description": "" }, { "id": "DOID:11105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11105", "name": "retinitis punctata albescens", "description": "" }, { "id": "MONDO:0007639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007639", "name": "fundus albipunctatus", "description": "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." }, { "id": "MONDO:0007639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007639", "name": "retinitis punctata albescens", "description": "" }, { "id": "MONDO:0007639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007639", "name": "fundus albipunctatus", "description": "" }, { "id": "MONDO:0007639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007639", "name": "pigmentary retinal dystrophy", "description": "" }, { "id": "MIM:136880", "resource": "MIM", "url": "https://www.omim.org/entry/136880", "name": "Fundus albipunctatus", "description": "Fundus albipunctatus" } ], "evidence": [ { "id": "136880", "database": "MIM", "url": "https://www.omim.org/entry/136880" } ] }, { "disease_id": "DOID:9822", "recommended_name": { "id": "DOID:9822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9822", "name": "partial central choroid dystrophy", "description": "" }, "synonyms": [ { "id": "DOID:9822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9822", "name": "Choroidal dystrophy, central areolar", "description": "" }, { "id": "MONDO:0013137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013137", "name": "choroidal dystrophy, central areolar 2", "description": "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." }, { "id": "MONDO:0013137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013137", "name": "PRPH2 central areolar choroidal dystrophy", "description": "" }, { "id": "MONDO:0013137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013137", "name": "central areolar choroidal dystrophy caused by mutation in PRPH2", "description": "" }, { "id": "MONDO:0013137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013137", "name": "choroidal dystrophy, central areolar 2", "description": "" }, { "id": "MONDO:0013137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013137", "name": "choroidal dystrophy, central areolar type 2", "description": "" }, { "id": "MONDO:0013137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013137", "name": "CACD2", "description": "" }, { "id": "MONDO:0013137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013137", "name": "macular dystrophy, progressive", "description": "" }, { "id": "MIM:613105", "resource": "MIM", "url": "https://www.omim.org/entry/613105", "name": "Choroidal dystrophy, central areolar 2", "description": "Choroidal dystrophy, central areolar 2" } ], "evidence": [ { "id": "613105", "database": "MIM", "url": "https://www.omim.org/entry/613105" } ] } ], "snv": [ { "evidence": [ { "id": "rs1761910137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1761910137" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 138, "end_pos": 138, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGM->NGT).", "chr_id": "6", "chr_pos": "42721922", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61755791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61755791" }, { "id": "rs61755791", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61755791" }, { "id": "rs61755791", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61755791#frequency_tab" }, { "id": "rs61755791", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61755791" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 170, "end_pos": 170, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNG->NNS).", "chr_id": "6", "chr_pos": "42721827", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs62645926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62645926" }, { "id": "rs62645926", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs62645926" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 184, "end_pos": 184, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRY->NRS).", "chr_id": "6", "chr_pos": "42721784", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1131691378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131691378" }, { "id": "rs1131691378", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1131691378" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 196, "end_pos": 196, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IKS->NKS).", "chr_id": "6", "chr_pos": "42704606", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61755805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61755805" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 216, "end_pos": 216, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NAS).", "chr_id": "6", "chr_pos": "42704547", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P216", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110383", "recommended_name": { "id": "DOID:0110383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110383", "name": "retinitis pigmentosa 7", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0110383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110383", "name": "RP7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7", "description": "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "RP7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7 and digenic form, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa type 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "Leber congenital amaurosis 18", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "RP 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7, digenic", "description": "" }, { "id": "MIM:608133", "resource": "MIM", "url": "https://www.omim.org/entry/608133", "name": "Retinitis pigmentosa 7", "description": "Retinitis pigmentosa 7" } ] } ] }, { "evidence": [ { "id": "rs61755806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61755806" }, { "id": "rs61755806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61755806" }, { "id": "1684223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1684223" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 216, "end_pos": 216, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "6", "chr_pos": "42704546", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P216", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "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:0110383", "recommended_name": { "id": "DOID:0110383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110383", "name": "retinitis pigmentosa 7", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0110383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110383", "name": "RP7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7", "description": "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "RP7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7 and digenic form, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa type 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "Leber congenital amaurosis 18", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "RP 7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7, digenic", "description": "" }, { "id": "MIM:608133", "resource": "MIM", "url": "https://www.omim.org/entry/608133", "name": "Retinitis pigmentosa 7", "description": "Retinitis pigmentosa 7" } ] } ] }, { "evidence": [ { "id": "rs61755805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61755805" }, { "id": "rs61755805", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs61755805" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 216, "end_pos": 216, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "6", "chr_pos": "42704547", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P216", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "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:0110383", "recommended_name": { "id": "DOID:0110383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110383", "name": "retinitis pigmentosa 7", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0110383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110383", "name": "RP7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "retinitis pigmentosa 7", "description": "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "RP7", "description": "" }, { "id": "MONDO:0011974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011974", "name": "leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant", "description": "" }, { 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric 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"name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P23942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23942" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23942" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23942" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P23942", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23942" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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} ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 229, "start_aa": "Asn", "end_pos": 229, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn229", "evidence": [ { "id": "P23942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23942#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 53, "start_aa": "Asn", "end_pos": 53, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn53", "evidence": [ { "id": "P23942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23942#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations.", "journal": "Hum. Mutat.", "date": "1998", "authors": "Trujillo MJ, Bueno J, Osorio A, Sanz R, Garcia-Sandoval B, Ramos C, Ayuso C", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "10627133", "url": "https://glygen.org/publication/PubMed/10627133" } ] }, { "title": "Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.", "journal": "Jpn. J. Ophthalmol.", "date": "2001", "authors": "Budu, Hayasaka S, Matsumoto M, Yamada T, Zhang XY, Hayasaka Y", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "11485765", "url": "https://glygen.org/publication/PubMed/11485765" } ] }, { "title": "Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.", "journal": "Genomics", "date": "1992", "authors": "Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D, Humphries P", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "1427912", "url": "https://glygen.org/publication/PubMed/1427912" } ] }, { "title": "A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.", "journal": "Arch. Ophthalmol.", "date": "2003", "authors": "van Lith-Verhoeven JJ, van den Helm B, Deutman AF, Bergen AA, Cremers FP, Hoyng CB, de Jong PT", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "14557182", "url": "https://glygen.org/publication/PubMed/14557182" } ] }, { "title": "A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.", "journal": "Ophthalmic Genet.", "date": "2004", "authors": "Yang Z, Li Y, Jiang L, Karan G, Moshfeghi D, O'Connor S, Li X, Yu Z, Lewis H, Zack D, Jacobson S, Zhang K", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "15370544", "url": "https://glygen.org/publication/PubMed/15370544" } ] }, { "title": "A novel mutation in the RDS gene in an Italian family with pattern dystrophy.", "journal": "Br. J. Ophthalmol.", "date": "2005", "authors": "Testa F, Marini V, Rossi S, Interlandi E, Nesti A, Rinaldi M, Varano M, Garre C, Simonelli F", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "16024869", "url": "https://glygen.org/publication/PubMed/16024869" } ] }, { "title": "The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.", "journal": "Genomics", "date": "1991", "authors": "Travis GH, Christerson L, Danielson PE, Klisak I, Sparkes RS, Hahn LB, Dryja TP, Sutcliffe JG", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "1679750", "url": "https://glygen.org/publication/PubMed/1679750" } ] }, { "title": "Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2006", "authors": "Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "16799052", "url": "https://glygen.org/publication/PubMed/16799052" } ] }, { "title": "Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.", "journal": "Arch. Ophthalmol.", "date": "2006", "authors": "Keilhauer CN, Meigen T, Weber BH", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "16832026", "url": "https://glygen.org/publication/PubMed/16832026" } ] }, { "title": "Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.", "journal": "Nature", "date": "1991", "authors": "Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" }, { "database": "dbSNP", "id": "rs61755806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61755806" } ], "reference": [ { "type": "PubMed", "id": "1684223", "url": "https://glygen.org/publication/PubMed/1684223" } ] }, { "title": "A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.", "journal": "Nature", "date": "1991", "authors": "Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "1749427", "url": "https://glygen.org/publication/PubMed/1749427" } ] }, { "title": "High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.", "journal": "Mol. Vis.", "date": "2007", "authors": "Gamundi MJ, Hernan I, Muntanyola M, Trujillo MJ, Garcia-Sandoval B, Ayuso C, Baiget M, Carballo M", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "17653047", "url": "https://glygen.org/publication/PubMed/17653047" } ] }, { "title": "Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.", "journal": "Am. J. Ophthalmol.", "date": "2009", "authors": "Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "19038374", "url": "https://glygen.org/publication/PubMed/19038374" } ] }, { "title": "PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.", "journal": "Eur. J. Ophthalmol.", "date": "2010", "authors": "Coco RM, Telleria JJ, Sanabria MR, Rodriguez-Rua E, Garcia MT", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "20213611", "url": "https://glygen.org/publication/PubMed/20213611" } ] }, { "title": "ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2010", "authors": "Poloschek CM, Bach M, Lagreze WA, Glaus E, Lemke JR, Berger W, Neidhardt J", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "20335603", "url": "https://glygen.org/publication/PubMed/20335603" } ] }, { "title": "Next-generation genetic testing for retinitis pigmentosa.", "journal": "Hum. Mutat.", "date": "2012", "authors": "Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "22334370", "url": "https://glygen.org/publication/PubMed/22334370" } ] }, { "title": "The landscape of cancer genes and mutational processes in breast cancer.", "journal": "Nature", "date": "2012", "authors": "Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, Nik-Zainal S, Martin S, Varela I, Bignell GR, Yates LR, Papaemmanuil E, Beare D, Butler A, Cheverton A, Gamble J, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, Lau KW, McLaren S, McBride DJ, Menzies A, Mudie L, Raine K, Rad R, Chapman MS, Teague J, Easton D, Langerod A, Lee MT, Shen CY, Tee BT, Huimin BW, Broeks A, Vargas AC, Turashvili G, Martens J, Fatima A, Miron P, Chin SF, Thomas G, Boyault S, Mariani O, Lakhani SR, van de Vijver M, van 't Veer L, Foekens J, Desmedt C, Sotiriou C, Tutt A, Caldas C, Reis-Filho JS, Aparicio SA, Salomon AV, Borresen-Dale AL, Richardson AL, Campbell PJ, Futreal PA, Stratton MR", "evidence": [ { "database": "dbSNP", "id": "rs1554269046", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554269046" } ], "reference": [ { "type": "PubMed", "id": "22722201", "url": "https://glygen.org/publication/PubMed/22722201" } ] }, { "title": "In vivo analysis of disease-associated point mutations unveils profound differences in mRNA splicing of peripherin-2 in rod and cone photoreceptors.", "journal": "PLoS Genet.", "date": "2016", "authors": "Becirovic E, Bohm S, Nguyen ON, Riedmayr LM, Koch MA, Schulze E, Kohl S, Borsch O, Santos-Ferreira T, Ader M, Michalakis S, Biel M", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "26796962", "url": "https://glygen.org/publication/PubMed/26796962" } ] }, { "title": "PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Xiao X, Ling F, Chen CB, Liang J, Cao Y, Xu Y, Chen H", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" } ], "reference": [ { "type": "PubMed", "id": "36088804", "url": "https://glygen.org/publication/PubMed/36088804" } ] }, { "title": "PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.", "journal": "Ophthalmology. Retina", "date": "2022-12-21", "authors": "Bianco Lorenzo, Arrigo Alessandro, Antropoli Alessio, Saladino Andrea, Spiga Ivana, Patricelli Maria Grazia, Bandello Francesco, Carrera Paola, Battaglia Parodi Maurizio", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" } ], "reference": [ { "type": "PubMed", "id": "36563963", "url": "https://glygen.org/publication/PubMed/36563963" } ] }, { "title": "New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.", "journal": "International journal of molecular sciences", "date": "2023-04-04", "authors": "Wang Yingwei, Wang Junwen, Jiang Yi, Zhu Di, Ouyang Jiamin, Yi Zhen, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Sun Wenmin, Wang Panfeng, Zhang Qingjiong", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" } ], "reference": [ { "type": "PubMed", "id": "37047703", "url": "https://glygen.org/publication/PubMed/37047703" } ] }, { "title": "Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.", "journal": "Klinische Monatsblatter fur Augenheilkunde", "date": "2023-04", "authors": "Sanlialp Ayse, Escher Pascal, Schaller Andr\u00e9, Todorova Margarita", "evidence": [ { "database": "RefSeq", "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313" } ], "reference": [ { "type": "PubMed", "id": "37164409", "url": "https://glygen.org/publication/PubMed/37164409" } ] }, { "title": "A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.", "journal": "Ophthalmic Genet.", "date": "1995", "authors": "Reig C, Serra A, Gean E, Vidal M, Arumi J, De la Calzada MD, Antich J, Carballo M", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "7493155", "url": "https://glygen.org/publication/PubMed/7493155" } ] }, { "title": "Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg).", "journal": "Am. J. Ophthalmol.", "date": "1994", "authors": "Feist RM, White MF Jr, Skalka H, Stone EM", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "7519821", "url": "https://glygen.org/publication/PubMed/7519821" } ] }, { "title": "A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.", "journal": "Ophthalmology", "date": "1995", "authors": "Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "7862413", "url": "https://glygen.org/publication/PubMed/7862413" } ] }, { "title": "A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.", "journal": "Genomics", "date": "1994", "authors": "Kikawa E, Nakazawa M, Chida Y, Shiono T, Tamai M", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "8020945", "url": "https://glygen.org/publication/PubMed/8020945" } ] }, { "title": "Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.", "journal": "Nat. Genet.", "date": "1993", "authors": "Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "8485574", "url": "https://glygen.org/publication/PubMed/8485574" } ] }, { "title": "Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.", "journal": "Nat. Genet.", "date": "1993", "authors": "Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al.", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "8485576", "url": "https://glygen.org/publication/PubMed/8485576" } ] }, { "title": "Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.", "journal": "Hum. Mutat.", "date": "1996", "authors": "Inglehearn C.F., Keen T.J.", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "8956033", "url": "https://glygen.org/publication/PubMed/8956033" } ] }, { "title": "Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.", "journal": "Hum. Mutat.", "date": "1997", "authors": "Felbor U, Schilling H, Weber BH", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "9338584", "url": "https://glygen.org/publication/PubMed/9338584" } ] }, { "title": "Founder effect, seen in the British population, of the 172 peripherin/RDS mutation- and further refinement of genetic positioning of the peripherin/RDS gene.", "journal": "Am. J. Hum. Genet.", "date": "1998", "authors": "Payne AM, Downes SM, Bessant DA, Bird AC, Bhattacharya SS", "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprot/P23942" } ], "reference": [ { "type": "PubMed", "id": "9443872", "url": "https://glygen.org/publication/PubMed/9443872" } ] } ], "pathway": [ { "id": "hsa:5961", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5961", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P15499-1", "protein_name": "Peripherin-2", "gene_name": "Prph2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALLKVKFDQKKRVKLAQGLWLMNWLSVLAGIVLFSLGLFLKIELRKRSEVMNNSESHFVPNSLIGVGVLSCVFNSLAGKICYDALDPAKYAKWKPWLKPYLAVCIFFNVILFLVALCCFLLRGSLESTLAYGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQLTNNSAHYSYDHQTEELNLWLRGCRAALLNYYSSLMNSMGVVTLLVWLFEVSITAGLRYLHTALESVSNPEDPECESEGWLLEKSVPETWKAFLESFKKLGKSNQVEAEGADAGPAPEAG", 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