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GENE - TERM ANNOTATION REPORT

RGD ID: 1589755
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tyr
Name: tyrosinase
Acc ID: DOID:0090100
Term: ocular albinism with sensorineural deafness
Definition: An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/ocular-albinism "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28356565 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29531335 "DO" "DO", https://www.omim.org/entry/103470 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Tyr ISOTYR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafnessPMID:11284711 PMID:11829136 PMID:13680365 PMID:1429711 PMID:15146472 PMID:15381243 PMID:15635296 PMID:16056219 PMID:16417222 PMID:1642278 PMID:1676041 PMID:18326704 PMID:18463683 PMID:18821858 PMID:18925668 PMID:1899321 PMID:1903591 PMID:19060277 PMID:19208379 PMID:19320745 PMID:1943686 PMID:19626598 PMID:19865097 PMID:20806075 PMID:20861488 PMID:21906913 PMID:21985232 PMID:22042571 PMID:22294196 PMID:22734612 PMID:23010199 PMID:23242301 PMID:23324268 PMID:2342539 PMID:23504663 PMID:23882993 PMID:24033266 PMID:24123366 PMID:25216246 PMID:25326635 PMID:25333069 PMID:25741868 PMID:25919014 PMID:26165494 PMID:26167114 PMID:26818737 PMID:27734839 PMID:27775880 PMID:27829221 PMID:27887888 PMID:28266639 PMID:28378818 PMID:28492532 PMID:28667292 PMID:28771251 PMID:28976636 PMID:29345414 PMID:30311386 PMID:30996339 PMID:31077556 PMID:31199599 PMID:31719542 PMID:32411182 PMID:32849781 PMID:5516239 PMID:7704033 PMID:7902671 PMID:7955413 PMID:8128955 PMID:8434585 PMID:9242509
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