Annotation Detail
Information
- Associated Genes
- FHL1
- Associated Variants
-
FHL1 p.Trp122Ser (p.W122S)
(
ENST00000370676.7,
ENST00000370683.6,
ENST00000394153.6,
ENST00000394155.8,
ENST00000535737.5,
ENST00000539015.5,
ENST00000543669.5,
ENST00000618438.4,
ENST00000628568.1,
ENST00000628919.3,
ENST00000629039.2,
ENST00000630084.2,
ENST00000651089.1,
ENST00000651929.2,
ENST00000652457.1 )
FHL1 p.Trp122Ser (p.W122S) ( ENST00000370676.7, ENST00000370683.6, ENST00000394153.6, ENST00000394155.8, ENST00000535737.5, ENST00000539015.5, ENST00000543669.5, ENST00000618438.4, ENST00000628568.1, ENST00000628919.3, ENST00000629039.2, ENST00000630084.2, ENST00000651089.1, ENST00000651929.2, ENST00000652457.1 ) - Associated Disease
- Muscle Weakness
- Source Database
- DisGeNET
- Description
- Because muscle weakness was evident prior to loss of Fhl1 protein and without reducing bodies, our findings indicate that loss of function is responsible for the myopathy in the Fhl1 W122S knock-in mice.
- Pubmed
- 25274776
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2015
Drugs