TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Congenital omphalocele ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.020 GeneticVariation disease BEFREE The finding that transcobalamin receptor (TCblR) and transporter (TCN2) SNPs and a BHMT SNP were associated with omphalocele suggests that disruption of methylation reactions, in which folate, vitamin B12, and homocysteine play critical parts, may be a risk factor for omphalocele. 22116453 2012
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.020 GeneticVariation disease BEFREE The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. 15937947 2005