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GENE - TERM ANNOTATION REPORT

RGD ID: 1553438
Species: Mus musculus
RGD Object: Gene
Symbol: Cav1
Name: caveolin 1, caveolae protein
Acc ID: DOID:418
Term: systemic scleroderma
Definition: A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/systemic-scleroderma "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)
Cav1 ISOCAV1 (Homo sapiens)8661773RGDprotein:decreased expression:lung, skin 
Cav1susceptibilityISOCAV1 (Homo sapiens)8661768RGDDNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human) 
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