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GENE - TERM ANNOTATION REPORT

RGD ID: 8887793
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Timp3
Name: TIMP metallopeptidase inhibitor 3
Acc ID: DOID:9002525
Term: Hereditary Eye Diseases
Definition: Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
Definition Source(s): MESH:D015785
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)
Timp3susceptibilityISOTIMP3 (Homo sapiens)9068941RGDprotein:mutation: ; Y172C; Sorsby fundus dystrophy, OMIM:136900PMID:9400791 REF_RGD_ID:1600153
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