Annotation Detail
Information
- Associated Genes
- MUC1
- Associated Variants
-
PEMT c.321-4250A>C
(
ENST00000395781.6,
ENST00000255389.10,
ENST00000435340.6,
ENST00000395782.5,
ENST00000395783.5 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
PEMT c.321-4250A>C ( ENST00000255389.10, ENST00000395781.6, ENST00000395782.5, ENST00000395783.5, ENST00000435340.6 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- endometriosis
- Source Database
- DisGeNET
- Description
- However, the exhaustive multifactor dimensionality reduction analysis revealed an epistatic interaction between rs1801133 of MTHFR and rs4244593 of PEMT in endometriosis-associated infertility (p=0.0240).
- Pubmed
- 21429654
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2011
Drugs