Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR MUTATION
MTHFR MUTATION - Associated Disease
- thrombophilia
- Source Database
- DisGeNET
- Description
- A postmortem genetic testing for common mutations resulting in thrombophilia should be performed in all individuals who die as a result of thrombosis, regardless of predisposing risk factors, to determine the true prevalence of mutations in these individuals, and to assess the true role of a certain mutation, such as heterozygote MTHFR C677T, in the pathogenesis of thrombosis.
- Pubmed
- 25074331
- 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
- 4
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.216296443846482
Drugs