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 dystrophy
- Source Database
- DisGeNET
- Description
- Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor.
- Pubmed
- 18509671
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00625309457951112
- Year of publication
- 2008
Drugs