Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR MUTATION
MTHFR MUTATION - Associated Disease
- thrombophilia
- 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,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.216296443846482
Drugs