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GENE - TERM ANNOTATION REPORT

RGD ID: 2280
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cav1
Name: caveolin 1
Acc ID: DOID:9001140
Term: Familial Partial Lipodystrophy Type 7
Definition: null
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)
Cav1 ISOCAV1 (Homo sapiens)7240710OMIM  
Cav1 ISOCAV1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cav1 ISOCAV1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndromePMID:11739396 PMID:18211975 PMID:18237401 PMID:25356970 PMID:25741868 PMID:25898808 PMID:34643546
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