Annotation Detail

Information
Associated Genes
ABCA1
Associated Variants
ABCA1 MUTATION
ABCA1 MUTATION
Associated Disease
obesity
Source Database
DisGeNET
Description
Current data exclude a major function of these syntrophins in ABCA1 activity and insulin release but suggest a role in regulating glucose uptake, ERK and SR-BI levels, and sphingomyelin metabolism in obesity.
Pubmed
25625330
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
15
Original source reporting the Gene Disease association
BeFree,GAD
DisGENET score for the Gene Disease association
0.00426712508316415
Drugs