Annotation Detail

Information
Associated Genes
ABCA1
Associated Variants
ABCA1 MUTATION
ABCA1 MUTATION
Associated Disease
Hypoalphalipoproteinemia, Familial
Source Database
DisGeNET
Description
We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial combined hyperlipidemia (FCH) or familial hypoalphalipoproteinemia (FHA) due to mutations in apolipoprotein A1 (ApoA1) or ATP-binding cassette transporter A1 (ABCA1).
Pubmed
25281277
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,CLINVAR,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.366243163057847
Drugs