DisGeNET - a database of gene-disease associations

MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 192; N. variants: 93

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs17367504

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs1057519359

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

26872964

2016

dbSNP:

rs1057519359

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

25856670

2016

dbSNP:

rs1057519360

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

26872964

2016

dbSNP:

rs1057519361

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

26872964

2016

dbSNP:

rs1057519362

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

26872964

2016

dbSNP:

rs1057519362

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

25856670

2016

dbSNP:

rs1057519363

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

26872964

2016

dbSNP:

rs17037390

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

27618452

2016

dbSNP:

rs17037390

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

27618452

2016

dbSNP:

rs17367504

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

27618448

2016

dbSNP:

rs17367504

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

27618447

2016

dbSNP:

rs759031330

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

26872964

2016

dbSNP:

rs765586205

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

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

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

CausalMutation

CLINVAR

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

26872964

2016

dbSNP:

rs121434295

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

25736335

2015

dbSNP:

rs121434295

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs121434297

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs121434297

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

25736335

2015

dbSNP:

rs1430872491

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

25736335

2015

dbSNP:

rs1430872491

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs144508139

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

25736335

2015

dbSNP:

rs144508139

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs201618781

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs201618781

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

0.700

GeneticVariation

UNIPROT

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

25736335

2015