×
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
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
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
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
CLINVAR
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.
12673793
2003
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
0.800
GeneticVariation
disease
UNIPROT
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
10679944
2000
×
Entrez Id:
22807
Gene Symbol:
IKZF2
IKZF2
0.010
Biomarker
disease
BEFREE
Conserved vitamin D-responsive element (VDRE)-type sequences in the Bhmt1 and Ikzf2 promoters, the universal need for methionine in epigenetic regulation, and betaine's protective effects in MTHFR-deficiency suggest similar regulatory mechanisms exist in humans.
30267995
2018
×
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
GeneticVariation
disease
BEFREE
Five patients suspected of having non-classical homocystinuria due to MTHFR deficiency were examined with respect to their symptoms, MTHFR enzyme activity and genotypes of the MTHFR gene.
20236116
2010
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
0.800
GeneticVariation
disease
CLINVAR
Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae.
10551815
1999
×
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
Biomarker
disease
CLINGEN
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
7920641
1994
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
0.800
GeneticVariation
disease
BEFREE
In earlier work, we isolated the human cDNA for MTHFR , and reported 14 mutations in severe MTHFR deficiency , as well as a common 677C-->T missense mutation (Ala-->Val) that encodes the thermolabile MTHFR .
10923034
2000
×
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
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
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
CausalMutation
disease
CLINVAR
Isolated remethylation disorders: do our treatments benefit patients?
20490923
2011
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
0.800
Biomarker
disease
CLINGEN
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.
20356773
2010
×
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
×
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
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
26872964
2016
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
0.800
CausalMutation
disease
CLINVAR
Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity.
15048559
2004