Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). 30867013 2019
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE For rs2236225 within MTHFD1, children with allele A or genotype AA had a high NTDs risk (OR=1.500, 95%CI=1.061~2.120; OR=2.862, 95%CI=1.022~8.015, respectively). 29392422 2018
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE Our research provides the first evidence supporting a paternal, rather than a maternal, transmission bias of MTHFD1 G1958A variant for NTD susceptibility in the offspring. 26394717 2016
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE Statistical and bioinformatics analyses were performed to investigate the relationship between SNPs in MTHFD1 and susceptibility to NTDs. 26343515 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE In our study, an increased risk of NTD was observed for 1958G>A of MTHFD1 (AA vs. GG: OR=2.63, 95% CI=2.61-5.70; AA vs. GG+GA: OR=2.10, 95% CI=1.07-4.14; A vs. G: OR=1.62, 95% CI=1.11-2.36). 25524527 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE In conclusion, the present meta-analysis provided evidence of the association between maternal MTHFD1 G1958A polymorphism and NTD susceptibility. 25502174 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE Our results demonstrated a significant correlation between the MTHFD1 G1958A polymorphism and NTDs in an overall meta-analysis. 24977710 2014
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses. 23704330 2013
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (rs2236225" genes_norm="1788;4522">R653Q)) have been found to increase NTD risk. 22856873 2012
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE A common variant in MTHFD1, p.Arg653Gln (c.1958G>A), may increase the risk for neural tube defects (NTD). 18767138 2009
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 Biomarker group BEFREE Having previously identified a polymorphism within the cytoplasmic folate enzyme, MTHFD1, as a maternal risk factor for NTDs, we considered the more recently identified mitochondrial paralogue, MTHFD1L, as a candidate gene for NTD association. 19777576 2009
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE Analysis of the MTHFD1 promoter and risk of neural tube defects. 19130090 2009
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group LHGDN In summary, our results indicate that heterozygosity and homozygosity for the MTHFD1 1958G > A polymorphism are genetic determinants of NTD risk in the cases examined. 16315005 2006
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population. 16552426 2006
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE In summary, our results indicate that heterozygosity and homozygosity for the MTHFD1 1958G > A polymorphism are genetic determinants of NTD risk in the cases examined. 16315005 2006
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 Biomarker group CTD_human We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population. 16552426 2006
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE We conclude that genetic variation in the MTHFD1 gene is associated with an increase in the genetically determined risk that a woman will bear a child with NTD and that the gene may be associated with decreased embryo survival. 12384833 2002
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 Biomarker group CTD_human We conclude that genetic variation in the MTHFD1 gene is associated with an increase in the genetically determined risk that a woman will bear a child with NTD and that the gene may be associated with decreased embryo survival. 12384833 2002
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 GeneticVariation group BEFREE A selected number of SBA patients was additionally tested for specific mutations in MTHFD, FRalpha, and PAX1 already shown to be related to NTD. 11320527 2001
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.400 Biomarker group BEFREE Our results so far provide no evidence for a major role of the methylenetetrahydrofolate-dehydrogenase (MTHFD) gene in NTD etiology. 9611072 1998