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:

rs786204007

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:

rs786204009

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:

rs786204009

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:

rs786204012

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:

rs786204012

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:

rs786204013

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:

rs786204013

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:

rs786204014

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:

rs786204014

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:

rs786204017

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:

rs786204017

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:

rs786204018

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:

rs786204018

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

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

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:

rs786204021

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:

rs786204021

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:

rs786204022

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:

rs786204022

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:

rs786204023

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:

rs786204023

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:

rs786204024

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:

rs786204024

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:

rs786204026

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:

rs786204026

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