Annotation Detail
Information
- Associated Genes
- PDLIM5
- 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
- myopathy
- Source Database
- DisGeNET
- Description
- In 2008, we identified a missense mutation in the second LIM domain of FHL1 (c.365 G>C, p.W122S) in a family with SP myopathy.
- Pubmed
- 25274776
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2015
Drugs