Annotation Detail

Information
Associated Genes
CFH
Associated Variants
CFH MUTATION
CFH MUTATION
Associated Disease
hypertrophic cardiomyopathy
Source Database
DisGeNET
Description
However, hypertrophic cardiomyopathy (HCM) and Emery-Dreifuss muscular dystrophy (EDMD) FHL1 mutants generally exhibited reduced expression.
Pubmed
24634512
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
6
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00162865123248182
Drugs