Annotation Detail
Information
- Associated Genes
- ANO5
- Associated Variants
-
ANO5 p.Arg758Cys (p.R758C)
(
ENST00000683411.1,
ENST00000682341.1,
ENST00000683437.1,
ENST00000683197.1,
ENST00000682266.1,
ENST00000324559.9,
ENST00000684663.1 )
ANO5 p.Arg758Cys (p.R758C) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 ) - Associated Disease
- Miyoshi muscular dystrophy 3
- Source Database
- DisGeNET
- Description
- Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
- Pubmed
- 20096397
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2010
Drugs