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GENE - TERM ANNOTATION REPORT

RGD ID: 1589755
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tyr
Name: tyrosinase
Acc ID: DOID:9001386
Term: Albinism
Definition: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Definition Source(s): MESH:D000417
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 IMP 12792973RGD  
Tyr ISOTyr (Mus musculus)8694353RGDDNA:missense mutation:cds:p.H420R(mouse) 
TyrtreatmentISOTyr (Mus musculus)8694355RGD  
Tyr ISOTYR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AlbinismPMID:10766867 PMID:10987646 PMID:12753405 PMID:13680365 PMID:1429711 PMID:15146472 PMID:15381243 PMID:16517127 PMID:17952075 PMID:1820207 PMID:18326704 PMID:1832718 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:1899321 PMID:1903591 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19626598 PMID:1970634 PMID:19865097 PMID:20301345 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:27734839 PMID:28041643 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28976636 PMID:2903492 PMID:29345414 PMID:30472657 PMID:31077556 PMID:33223529 PMID:34008892 PMID:34897530 PMID:35803923 PMID:666627 PMID:7704033 PMID:7849740 PMID:7955413 PMID:8434585 PMID:9158138 PMID:9163730
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