Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
CFH MUTATION
CFH MUTATION - Associated Disease
- myopathy
- Source Database
- DisGeNET
- Description
- Mutations in FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal (SP) myopathy, reducing body myopathy, X-linked myopathy with postural muscle atrophy, rigid spine syndrome (RSS) and Emery-Dreifuss muscular dystrophy.
- Pubmed
- 25274776
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
Drugs