MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 192; N. variants: 93
Disease: Down Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease CTD_human Re: folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 17431899 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease CTD_human The 677-1298 T-C haplotype at the MTHFR locus was also a risk factor for Down syndrome (P = 0.0022). 16845273 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease CTD_human MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. 16489479 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease CTD_human Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21. 16353284 2005