Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR MUTATION
MTHFR MUTATION
Associated Disease
congenital heart defects
Source Database
DisGeNET
Description
Studies have reported that the MTHFR C677T polymorphism was associated with the development of structural congenital heart malformations.
Pubmed
25256053
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.167849847576147
Drugs