Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. 31238314 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 AlteredExpression group BEFREE A much-reduced expression of MTHFR (p < 0.01) and an abnormally high expression of methionine synthase reductase (p < 0.001) were observed in the NTD group. 30941645 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE For rs1801394 within MTRR, children carrying allele G and genotype GG had a higher NTDs risk (OR=1.533, 95%CI=1.102~2.188; OR=2.355, 95%CI=1.044~5.312, respectively). 29392422 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE The further meta-analysis enhance that MTRR 66A>G was connected with the susceptibility of NTDs widely. 26334892 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE In conclusion, present meta-analysis supports that the maternal MTHFR C677T and MTRR A66G are polymorphisms contributory to risk for NTD. 25005003 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE The present meta-analysis indicated that MTRR A66G polymorphism, but not MTR A2756G, is significantly associated with maternal risk for NTDs in Caucasians. 23266814 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE However, we found no significant effects of MTHFR A1298C, MTR A2756G, MTRR A66G in risk of NTDs in dominant, recessive or in allelic models. 23593147 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 Biomarker group BEFREE Methionine synthase (MTR) and MTR reductase (MTRR) genes have been considered to be implicated in the development of neural tube defects (NTDs). 23425389 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Both paternal and maternal GCP II T-variant alleles were found to interact with MTHFR 677T- and MTRR G-variant alleles in increasing the risk for NTD. 20047525 2010
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE An homozygous state for the MTRR polymorphism was diagnosed in the mother, identifying a clinical risk for NTD. 17688469 2007
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Meta-analyses were conducted to set the results of the case-control study in the context of eligible literature on the relation between the MTRR 66A>G variant and NTD risk. 17024475 2006
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE We studied the MTRR polymorphisms I22M (66A-->G), S175L (524C-->T), and K350R (1049A-->G) as potential NTD risk factors in a large homogeneous Irish NTD population. 15979034 2005
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Maternal-fetal interaction was also detected when offspring carried the MTHFR 677C-->T variant and mothers carried the MTRR 66A-->G variant, resulting in a significantly elevated risk of NTD. 15060097 2004
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE According to the results of this study, the genetic predisposition to NTD can be correlated with the 677TT genotype in the MTHFR gene, 677CT/1298AC haplotype (the MTHFR gene), 2756G allele in the MTR gene, 66AG variant and minisatellite sequence with 5 or 10 repeats in intron 6 of the MTRR gene. 15306729 2004
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group LHGDN Results of screening mutations 2756A-->G and 66A-->G in MTR and MTRR genes respectively show that are might have an effect on NTDs incidence among the examined population. 12810988 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 Biomarker group BEFREE Our results indicate that MTRR and MTR genes may interact to increase the infants' NTD risks. 12649067 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. 12812837 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 AlteredExpression group BEFREE MTRR, combined with a low level of vitamin B12, increases the risk of NTD and of having a child with NTD in Canada, while TCN 776 GG and MTRR 66 GG mutated genotypes associated with the MTHFR 677 CC wild-type are predictors of NTD cases in Sicily. 14656028 2003