Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 MUTATION
ABCB1 MUTATION
Associated Disease
Ventricular Septal Defects
Source Database
DisGeNET
Description
In conclusion, fetal 3435 C>T polymorphism in the ABCB1 gene increases the risk for isolated septal defects in the presence of maternal medication use periconceptionally, particularly for perimembranous VSD.
Pubmed
24740628
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
11
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs