MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204019
rs786204019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 GeneticVariation UNIPROT Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335 2015
dbSNP: rs786204019
rs786204019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs786204019
rs786204019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 GeneticVariation UNIPROT Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. 20236116 2010
dbSNP: rs786204019
rs786204019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 GeneticVariation UNIPROT Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. 10679944 2000
dbSNP: rs786204019
rs786204019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 GeneticVariation UNIPROT Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. 9781030 1998
dbSNP: rs786204019
rs786204019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 GeneticVariation UNIPROT Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. 8940272 1996
dbSNP: rs786204019
rs786204019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 GeneticVariation UNIPROT Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. 7726158 1995
dbSNP: rs786204019
rs786204019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		C 0.800 CausalMutation CLINVAR