Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
CFH MUTATION
CFH MUTATION - Associated Disease
- Reducing-body myopathy
- Source Database
- DisGeNET
- Description
- Protein aggregates, designated 'reducing bodies', that contain mutant FHL1 are detected in RBM muscle but not in several other FHL1 myopathies.
- Pubmed
- 24634512
- 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
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
Drugs