Annotation Detail
Information
- Associated Genes
- HPSE
- Associated Variants
-
MTHFR p.Glu474Ala (p.E474A)
(
ENST00000376592.6,
ENST00000641407.1,
ENST00000376590.9,
ENST00000423400.7,
ENST00000641820.1,
ENST00000376583.7,
ENST00000376585.6 )
HPSE p.Pro226Leu (p.P226L) ( ENST00000311412.10, ENST00000405413.6, ENST00000512196.5, ENST00000513463.1, ENST00000681769.1 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
HPSE p.Pro226Leu (p.P226L) ( ENST00000311412.10, ENST00000405413.6, ENST00000512196.5, ENST00000513463.1, ENST00000681769.1 ) - Associated Disease
- Factor V Leiden mutation
- Source Database
- DisGeNET
- Description
- DNA from leukocytes was tested for: factor V Leiden (mutation G1691A), factor V R2 (H1299R), factor II (G20210A), methylenetetrahydrofolate reductase (MTHFR) (C677T and A1298C), beta-fibrinogen (-455 G>A), PAI-1 alleles 4G/5G, factor XIII (V34L), and HPA-1 (L33P).
- Pubmed
- 19395327
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs