Gene: MTHFR ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease BEFREE A common variant in methylenetetrahydrofolate reductase (MTHFR 677C→T) causes mild MTHFR deficiency with lower 5-methyltetrahydrofolate for methylation reactions. 30408316 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 AlteredExpression disease BEFREE Testicular MTHFR protein levels decreased significantly in wild-type mice on the 20× diet but not in those on the 10× diet, suggesting a possible role for MTHFR deficiency in sperm DNA hypomethylation. 29360980 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 Biomarker disease GENOMICS_ENGLAND Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes. 29391032 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease CLINVAR Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. 27743313 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 Biomarker disease CLINGEN Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. 27743313 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease BEFREE Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. 27130656 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 CausalMutation disease CLINVAR Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. 25856670 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease CLINVAR Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency. 26872964 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 CausalMutation disease CLINVAR Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency. 26898294 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 CausalMutation disease CLINVAR Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency. 26872964 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 Biomarker disease CLINGEN Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. 27130656 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease UNIPROT Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 CausalMutation disease CLINVAR Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 Biomarker disease CLINGEN Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease CLINVAR Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 Biomarker disease GENOMICS_ENGLAND Association between methylenetetrahydrofolate reductase C677T polymorphism and epilepsy susceptibility: a meta-analysis. 24556013 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease BEFREE The diagnosis of MTHFR deficiency was confirmed based on extremely reduced fibroblast MTHFR activity (0.3 nmol CHO/mg prot/hr) as well as mutation analysis that revealed two variants in the MTHFR gene, a splice site mutation p (IVS5-1G>A), as well as a missense mutation (c.155 G>A; p. Arg52Gln). 25079578 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease CLINVAR Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia. 24797679 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 CausalMutation disease CLINVAR Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders. 24997712 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 CausalMutation disease CLINVAR Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects. 22887477 2013
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 Biomarker disease BEFREE In the latter group, remethylation disorders of homocysteine to methionine (chiefly CblC defect and 5,10-methylenetetrahydrofolate reductase [MTHFR] deficiency) are by far the most frequently encountered situations. 23124942 2012
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 CausalMutation disease CLINVAR Isolated remethylation disorders: do our treatments benefit patients? 20490923 2011
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.800 GeneticVariation disease UNIPROT Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. 20236116 2010