Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR MUTATION
MTHFR MUTATION
Associated Disease
Deep vein thrombosis of lower limb
Source Database
DisGeNET
Description
Purpose of the conducted study was to establish the role of point mutations of prothrombin (PHG) - 20210G/A; Factor V Leiden (FVL) - 1691G/A and methylenetetrahydrofolate reductase (MTHFR) - 677C/T genes, i.e. inherited thrombophilia in the pathogenesis of proximal and distal lower extremity deep vein thrombosis in patients of the Georgian population, as in case of proximal thrombosis there is a higher risk of recurrent thrombosis.
Pubmed
24632657
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
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00380018620912425
Drugs