Annotation Detail
Information
- Associated Genes
- COX8A
- Associated Variants
-
MTHFR p.Glu474Ala (p.E474A)
(
ENST00000376592.6,
ENST00000641407.1,
ENST00000376590.9,
ENST00000423400.7,
ENST00000641820.1,
ENST00000376583.7,
ENST00000376585.6 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Activated Protein C Resistance
- Source Database
- DisGeNET
- Description
- All 11 cases had one or more familial thrombophilic coagulation disorder including one heterozygous for the G1691A factor V Leiden mutation, two with low free protein S, four with high factor VIII, three with resistance to activated protein C, three homozygous for the C677T methylenetetrahydrofolate reductase (MTHFR) mutation, two compound C677T-A1298C MTHFR heterozygotes, and three with hypofibrinolytic 4G4G homozygosity for the PAI-1 gene.
- Pubmed
- 16015408
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
- Year of publication
- 2005
Drugs