{ "uniprot_canonical_ac": "P12271-1", "uniprot_ac": "P12271", "uniprot_id": "RLBP1_HUMAN", "mass": { "chemical_mass": 36474.0, "monoisotopic_mass": 36474.0 }, "refseq": { "ac": "NP_000317", "name": "retinaldehyde-binding protein 1", "summary": "The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317" }, "gene_names": [ { "name": "RLBP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12271", "id": "P12271" }, { "name": "CRALBP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317", "id": "NP_000317" }, { "name": "CRALBP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12271", "id": "P12271" }, { "name": "RLBP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317", "id": "NP_000317" } ], "protein_names": [ { "name": "Retinaldehyde-binding protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12271" }, { "name": "Cellular retinaldehyde-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12271" }, { "name": "cellular retinaldehyde-binding protein-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317", "id": "NP_000317" }, { "name": "retinaldehyde-binding protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317", "id": "NP_000317" } ], "function": [ { "annotation": "Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317" }, { "database": "PubMed", "id": "32587456", "url": "https://glygen.org/publication/PubMed/32587456" } ] }, { "annotation": "Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.", "evidence": [ { "database": "RefSeq", "id": "NP_000317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317" }, { "database": "PubMed", "id": "32188692", "url": "https://glygen.org/publication/PubMed/32188692" } ] }, { "annotation": "Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.", "evidence": [ { "database": "RefSeq", "id": "NP_000317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317" }, { "database": "PubMed", "id": "34115091", "url": "https://glygen.org/publication/PubMed/34115091" } ] }, { "annotation": "Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.", "evidence": [ { "database": "UniProtKB", "id": "P12271", "url": "https://www.uniprot.org/uniprot/P12271#function" }, { "database": "PubMed", "id": "19846785", "url": "https://glygen.org/publication/PubMed/19846785" } ] }, { "annotation": "The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317" } ] }, { "annotation": "Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.", "evidence": [ { "database": "RefSeq", "id": "NP_000317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317" }, { "database": "PubMed", "id": "34410188", "url": "https://glygen.org/publication/PubMed/34410188" } ] } ], "disease": [ { "disease_id": "DOID:0050683", "recommended_name": { "id": "DOID:0050683", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050683", "name": "Bothnia retinal dystrophy", "description": "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene." }, "synonyms": [ { "id": "DOID:0050683", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050683", "name": "Vasterbotten dystrophy", "description": "" }, { "id": "MONDO:0011838", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011838", "name": "Bothnia retinal dystrophy", "description": "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted." }, { "id": "MONDO:0011838", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011838", "name": "Bothnia retinal dystrophy", "description": "" }, { "id": "MONDO:0011838", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011838", "name": "VC$sterbotten dystrophy", "description": "" }, { "id": "MONDO:0011838", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011838", "name": "Vasterbotten dystrophy", "description": "" }, { "id": "MONDO:0011838", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011838", "name": "Vsterbotten dystrophy", "description": "" }, { "id": "MIM:607475", "resource": "MIM", "url": "https://www.omim.org/entry/607475", "name": "Bothnia retinal dystrophy", "description": "Bothnia retinal dystrophy" } ], "evidence": [ { "id": "607475", "database": "MIM", "url": "https://www.omim.org/entry/607475" } ] }, { "disease_id": "DOID:0111015", "recommended_name": { "id": "DOID:0111015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111015", "name": "Newfoundland cone-rod dystrophy", "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26." }, "synonyms": [ { "id": "DOID:0111015", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111015", "name": "NFRCD", "description": "" }, { "id": "MONDO:0011839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011839", "name": "Newfoundland cone-rod dystrophy", "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene." }, { "id": "MONDO:0011839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011839", "name": "NFRCD", "description": "" }, { "id": "MONDO:0011839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011839", "name": "RLBP1 cone-rod dystrophy", "description": "" }, { "id": "MONDO:0011839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011839", "name": "cone-rod dystrophy caused by mutation in RLBP1", "description": "" }, { "id": "MONDO:0011839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011839", "name": "Newfoundland ROD-cone dystrophy", "description": "" }, { "id": "MIM:607476", "resource": "MIM", "url": "https://www.omim.org/entry/607476", "name": "Rod-cone dystrophy Newfoundland", "description": "Rod-cone dystrophy Newfoundland" } ], "evidence": [ { "id": "607476", "database": "MIM", "url": "https://www.omim.org/entry/607476" } ] }, { "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" } ] } ], "snv": [ { "evidence": [ { "id": "rs974591388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs974591388" }, { "id": "rs974591388", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs974591388" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "15", "chr_pos": "89218627", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567124404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567124404" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->null).", "chr_id": "15", "chr_pos": "89218628", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T27", "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" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1342305900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342305900" }, { "id": "rs1342305900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1342305900#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 55, "end_pos": 55, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NER->NET).", "chr_id": "15", "chr_pos": "89217302", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R55", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "32.3", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "48.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "54.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "45.09", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "36.37", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "42.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "37.95", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "39.31", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140522", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140522" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12271", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12271" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12271", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12271" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "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 tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P12271", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12271" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "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 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"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": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P12271", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12271" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12271" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://www.rcsb.org/structure/4CJ6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00650", "url": "http://pfam.xfam.org/family/PF00650", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03765", "url": "http://pfam.xfam.org/family/PF03765", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P12271", "url": "https://pharos.nih.gov/targets/P12271", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P12271", "url": "http://purl.obolibrary.org/obo/PR_P12271", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2453902", "url": 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"Protein" ] } ], "sequence": { "sequence": "MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF", "length": 317, "header": "sp|P12271-1|RLBP1_HUMAN Isoform 1 of Retinaldehyde-binding protein 1 OS=Homo sapiens OX=9606 GN=RLBP1 PE=1 SV=2 CANONICAL=P12271-1" }, "isoforms": [ { "isoform_ac": "H3BN92-1", "url": "", "sequence": { "sequence": "XNGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF", "length": 108, "header": "tr|H3BN92-1|RLBP1_HUMAN Computationally mapped isoform of Retinaldehyde-binding protein 1 OS=Homo sapiens OX=9606 GN=RLBP1 PE=1 SV=1 CANONICAL=P12271-1" }, "locus": { "chromosome": "15", "start_pos": 89211843, "end_pos": 89210287, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563254.1", "url": "https://www.ensembl.org/id/ENST00000563254.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454740.1", "url": "https://www.ensembl.org/id/ENSP00000454740.1" } ] } }, { "isoform_ac": "H3BTN3-1", "url": "", "sequence": { "sequence": "MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEPVPRGCPLHH", "length": 71, "header": "tr|H3BTN3-1|RLBP1_HUMAN Computationally mapped isoform of Retinaldehyde-binding protein 1 OS=Homo sapiens OX=9606 GN=RLBP1 PE=1 SV=1 CANONICAL=P12271-1" }, "locus": { "chromosome": "15", "start_pos": 89218975, "end_pos": 89215166, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567787.1", "url": "https://www.ensembl.org/id/ENST00000567787.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457251.1", "url": "https://www.ensembl.org/id/ENSP00000457251.1" } ] } }, { "isoform_ac": "P12271-1", "url": "", "sequence": { "sequence": "MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF", "length": 317, "header": "sp|P12271-1|RLBP1_HUMAN Isoform 1 of Retinaldehyde-binding protein 1 OS=Homo sapiens OX=9606 GN=RLBP1 PE=1 SV=2 CANONICAL=P12271-1" }, "locus": { "chromosome": "15", "start_pos": 89218975, "end_pos": 89210288, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000268125.10", "url": "https://www.ensembl.org/id/ENST00000268125.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000268125.5", "url": "https://www.ensembl.org/id/ENSP00000268125.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 27, "start_aa": "Thr", "end_pos": 27, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr27", "evidence": [ { "id": "P12271", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12271" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sun H, Molday RS, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10075733", "url": "https://glygen.org/publication/PubMed/10075733" } ] }, { "title": "Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.", "journal": "Investigative ophthalmology & visual science", "date": "1999", "authors": "Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K", "evidence": [ { "database": "UniProtKB", "id": "P12271", "url": "https://www.uniprot.org/uniprot/P12271" } ], "reference": [ { "type": "PubMed", "id": "10102298", "url": "https://glygen.org/publication/PubMed/10102298" } ] }, { "title": "Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.", "journal": "Investigative ophthalmology & visual science", "date": "1999", "authors": "Morimura H, Berson EL, Dryja TP", "evidence": [ { "database": "UniProtKB", "id": "P12271", "url": "https://www.uniprot.org/uniprot/P12271" } ], "reference": [ { "type": "PubMed", "id": "10102299", "url": "https://glygen.org/publication/PubMed/10102299" } ] }, { "title": "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.", "journal": "Nature genetics", "date": "1999", "authors": "Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "10369264", "url": "https://glygen.org/publication/PubMed/10369264" } ] }, { "title": "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.", "journal": "Molecular vision", "date": "1999", "authors": "Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10617778", "url": "https://glygen.org/publication/PubMed/10617778" } ] }, { "title": "Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10753906", "url": "https://glygen.org/publication/PubMed/10753906" } ] }, { "title": "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.", "journal": "Investigative ophthalmology & visual science", "date": "2000", "authors": "Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11053295", "url": "https://glygen.org/publication/PubMed/11053295" } ] }, { "title": "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.", "journal": "American journal of ophthalmology", "date": "2000", "authors": "Kuroiwa S, Kikuchi T, Yoshimura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11078852", "url": "https://glygen.org/publication/PubMed/11078852" } ] }, { "title": "The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase.", "journal": "Biochemistry", "date": "2000", "authors": "Biswas EE, Biswas SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "11123914", "url": "https://glygen.org/publication/PubMed/11123914" } ] }, { "title": "Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.", "journal": "Visual neuroscience", "date": "2000", "authors": "Cideciyan AV, Haeseleer F, Fariss RN, Aleman TS, Jang GF, Verlinde CLMJ, Marmor MF, Jacobson SG, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11153648", "url": "https://glygen.org/publication/PubMed/11153648" } ] }, { "title": "Identification, retinoid binding, and x-ray analysis of a human retinol-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Folli C, Calderone V, Ottonello S, Bolchi A, Zanotti G, Stoppini M, Berni R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "11274389", "url": "https://glygen.org/publication/PubMed/11274389" } ] }, { "title": "Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.", "journal": "Nature genetics", "date": "2001", "authors": "Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11381255", "url": "https://glygen.org/publication/PubMed/11381255" } ] }, { "title": "Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.", "journal": "Clinical genetics", "date": "2001", "authors": "Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR", "evidence": [ { "database": "UniProtKB", "id": "P12271", "url": "https://www.uniprot.org/uniprot/P12271" } ], "reference": [ { "type": "PubMed", "id": "11453974", "url": "https://glygen.org/publication/PubMed/11453974" } ] }, { "title": "The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes.", "journal": "Human molecular genetics", "date": "2002", "authors": "Jagla WM, Jagle H, Hayashi T, Sharpe LT, Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11772996", "url": "https://glygen.org/publication/PubMed/11772996" } ] }, { "title": "Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.", "journal": "Am. J. Hum. Genet.", "date": "2002", "authors": "Eichers Erica R, Green Jane S, Stockton David W, Jackman Christopher S, Whelan James, McNamara J Arch, Johnson Gordon J, Lupski James R, Katsanis Nicholas", "evidence": [ { "database": "UniProtKB", "id": "P12271", "url": "https://www.uniprot.org/uniprot/P12271" } ], "reference": [ { "type": "PubMed", "id": "11868161", "url": "https://glygen.org/publication/PubMed/11868161" } ] }, { "title": "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kedishvili NY, Chumakova OV, Chetyrkin SV, Belyaeva OV, Lapshina EA, Lin DW, Matsumura M, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12036956", "url": "https://glygen.org/publication/PubMed/12036956" } ] }, { "title": "Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "12051694", "url": "https://glygen.org/publication/PubMed/12051694" } ] }, { "title": "Rhodopsin with 11-cis-locked chromophore is capable of forming an active state photoproduct.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fan G, Siebert F, Sheves M, Vogel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12177057", "url": "https://glygen.org/publication/PubMed/12177057" } ] }, { "title": "Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight.", "journal": "Neuron", "date": "2002", "authors": "Mata NL, Radu RA, Clemmons RC, Travis GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "12367507", "url": "https://glygen.org/publication/PubMed/12367507" } ] }, { "title": "Cloning and characterization of a novel all-trans retinol short-chain dehydrogenase/reductase from the RPE.", "journal": "Investigative ophthalmology & visual science", "date": "2002", "authors": "Wu BX, Chen Y, Chen Y, Fan J, Rohrer B, Crouch RK, Ma JX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12407145", "url": "https://glygen.org/publication/PubMed/12407145" } ] }, { "title": "Defective colour vision associated with a missense mutation in the human green visual pigment gene.", "journal": "Nature genetics", "date": "1992", "authors": "Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG, Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "1302020", "url": "https://glygen.org/publication/PubMed/1302020" } ] }, { "title": "The familial distribution of congenital tritanopia, with some remarks on some similar conditions.", "journal": "Annals of human genetics", "date": "1955", "authors": "KALMUS H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "13249225", "url": "https://glygen.org/publication/PubMed/13249225" } ] }, { "title": "Human tritanopia associated with a third amino acid 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