Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR MUTATION
MTHFR MUTATION - Associated Disease
- Factor V Leiden mutation
- Source Database
- DisGeNET
- Description
- Of the 58 patients, 30 had factor V Leiden mutation (5 homozygous, 25 heterozygous), 16 had prothrombin gene mutation, 24 had methylenetetrahydrofolate reductase C677T mutation (5 homozygous, 19 heterozygous), 18 had protein C deficiency, 17 had protein S deficiency, 14 had antithrombin III deficiency and 13 had hyperhomocysteinaemia.
- Pubmed
- 25326427
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0187294891735409
Drugs