Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation LHGDN Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects. 18068170

2008
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation LHGDN Non-Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C > T: a meta-analysis. 17618486

2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation LHGDN MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect. 17085942

2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation LHGDN Analysis of data for the studied population does not prove the influence of mutations 677C-->T and 1298A-->C of MTHFR gene on NTDs. 12810988

2003
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation LHGDN We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A-->C. 12730722

2003
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation LHGDN In conclusion, homozygosity for the C677T mutation in the MTHFR gene does not constitute a genetic risk factor for coronary artery diseases and neural tube defects in the Indonesian Javanese population. 12594357

2002
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation LHGDN Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense? 12180076

2002
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation LHGDN In NTDs children, C677T MTHFR genotypes did not affect vitamins and homocysteine concentrations, but plasma homocysteine was higher (p=0.028) in patients with 1298AA MTHFR genotype. 11880124

2002