Annotation Detail

Information
Associated Genes
SLC6A4
Associated Variants
SLC6A4 MUTATION
SLC6A4 MUTATION
Associated Disease
Cardiomyopathies
Source Database
DisGeNET
Description
We postulate that the HD-related cardiomyopathy is caused by altered central autonomic pathways although the pathogenic effects of mutant HTT acting intrinsically in the heart may also be a contributing factor.
Pubmed
25101683
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
11
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs