Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
CFH MUTATION
CFH MUTATION - Associated Disease
- myopathy
- Source Database
- DisGeNET
- Description
- FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
- Pubmed
- 24634512
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
Drugs