TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Neural Tube Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 Biomarker group BEFREE We replicated the association of TCN2, BHMT and GLI3 with NTD risk in the 81 cases. 31139930 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 GeneticVariation group BEFREE We conducted a multicenter case-control study to compare plasma folate, vitamin B(12) , homocysteine and holo-transcobalamin levels, and polymorphisms in methylenetetrahydrofolate reductase (MTHFR, 677C>T, 1298A>C, 1781G>A and 236+724A>G) and transcobalamin (TCN2, 776C>G) genes, in 318 women with NTD-affected offspring (cases) and 702 women with apparently healthy offspring (controls). 21770021 2011
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 GeneticVariation group BEFREE TCII genotypes were determined for more than 300 Irish NTD families and a comparable number of Irish controls. 15782407 2005
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 GeneticVariation group LHGDN TCII genotypes were determined for more than 300 Irish NTD families and a comparable number of Irish controls. 15782407 2005
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 GeneticVariation group BEFREE Small variations in TC-II affinity were recently linked to a high homocysteine level and increased frequency of neural tube defects. 14689755 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 GeneticVariation group BEFREE Since the variation in apo-transcobalamin II in adults is to a high degree genetically determined, the present results may suggest that the genetic predisposition to NTD is associated with variation in this protein. 2430743 1986