MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 192; N. variants: 93
Disease: Anencephaly ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.440 SusceptibilityMutation disease ORPHANET Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects. 22754237 2012