Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 MUTATION
ABCB1 MUTATION
Associated Disease
Hypercholesterolemia, Familial
Source Database
DisGeNET
Description
The mRNA expression and function of OATP1B1, ABCB1 and ABCG2 were assessed in peripheral blood mononuclear cells (PBMCs) of healthy subjects and from patients with familial hypercholesterolemia (FH) before and after statin treatment by real-time PCR and flow cytometric assay, respectively.
Pubmed
25084202
Section of the abstract supporting the evidence
PATIENTS & METHODS
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs