Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
CD320 p.Gln8Arg (p.Q8R)
(
ENST00000301458.10,
ENST00000537716.6 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7 )
CD320 p.Gln8Arg (p.Q8R) ( ENST00000301458.10, ENST00000537716.6 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Congenital omphalocele
- Source Database
- DisGeNET
- Description
- In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele.
- Pubmed
- 22116453
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2012
Drugs