Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Pro105Leu (p.P105L)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Pro105Leu (p.P105L) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- Muscular Dystrophies, Limb-Girdle
- Source Database
- DisGeNET
- Description
- Skeletal muscle expressing Pro104Leu mutant caveolin 3 (CAV3(P104L)) in mouse becomes atrophied and serves as a model of autosomal dominant limb-girdle muscular dystrophy 1C.
- Pubmed
- 22584670
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.251139048276957
- Year of publication
- 2012
Drugs