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: rs765586205
rs765586205
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		T 0.700 CausalMutation 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
dbSNP: rs765586205
rs765586205
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		T 0.700 CausalMutation CLINVAR Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency. 26872964 2016
dbSNP: rs765586205
rs765586205
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		T 0.700 CausalMutation CLINVAR Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335 2015
dbSNP: rs765586205
rs765586205
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		T 0.700 CausalMutation CLINVAR Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders. 24997712 2014
dbSNP: rs765586205
rs765586205
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		T 0.700 CausalMutation CLINVAR Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects. 22887477 2013