Annotation Detail

Information
Associated Genes
SLC6A4
Associated Variants
SLC6A4 MUTATION
SLC6A4 MUTATION
Associated Disease
Huntington disease
Source Database
DisGeNET
Description
Unintended weight loss, sleep and circadian disturbances and autonomic dysfunction are prevalent features of Huntington's disease (HD), an autosomal dominantly inherited neurodegenerative disorder caused by an expanded CAG repeat sequence in the HTT gene.
Pubmed
25074766
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