CD320, CD320 molecule, 51293

N. diseases: 20; N. variants: 5
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 		0.010 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