Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
CFH MUTATION
CFH MUTATION - Associated Disease
- Muscular Dystrophy, Emery-Dreifuss
- Source Database
- DisGeNET
- Description
- Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the genes encoding emerin, lamins A and C and FHL1.
- Pubmed
- 24365856
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
Drugs