Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		0.300 Biomarker CTD_human Re: folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 17431899

2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		0.300 Biomarker CTD_human Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 16845273

2006
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		0.300 Biomarker CTD_human MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. 16489479

2006
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		0.300 Biomarker CTD_human Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21. 16353284

2005