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GENE - TERM ANNOTATION REPORT

RGD ID: 9046719
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Cav1
Name: caveolin 1
Acc ID: DOID:1580
Term: diffuse scleroderma
Definition: A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.
Definition Source(s): MESH:D045743
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)
Cav1no_associationISOCAV1 (Homo sapiens)9068941RGDDNA:SNPs:enhancer, intron:multiplePMID:22402147 REF_RGD_ID:8661768
Cav1susceptibilityISOCAV1 (Homo sapiens)9068941RGDDNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human)PMID:22402147 REF_RGD_ID:8661768
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