Annotation Detail

Information
Associated Genes
SLC6A4
Associated Variants
SLC6A4 MUTATION
SLC6A4 MUTATION
Associated Disease
Huntington disease
Source Database
DisGeNET
Description
Huntington's disease (HD) is a dominant neurodegenerative disorder that is due to expansion of an unstable HTT CAG repeat for which genome-wide genetic scans are now revealing chromosome regions that contain disease-modifying genes.
Pubmed
25645993
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
0.00868613990656971
Drugs