DisGeNET - a database of gene-disease associations

MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137

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

Variant: rs121434296 ×

Source: ALL

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:

rs121434296

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

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

0.800

GeneticVariation

CLINVAR

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

27743313

2017

dbSNP:

rs121434296

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

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

0.800

GeneticVariation

CLINVAR

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

26872964

2016

dbSNP:

rs121434296

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

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

0.800

GeneticVariation

CLINVAR

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

25736335

2015

dbSNP:

rs121434296

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:

rs121434296

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:

rs121434296

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

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

0.800

GeneticVariation

CLINVAR

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

24797679

2014

dbSNP:

rs121434296

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:

rs121434296

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

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

0.800

GeneticVariation

CLINVAR

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

17409006

2007

dbSNP:

rs121434296

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

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

0.800

GeneticVariation

CLINVAR

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.

12673793

2003

dbSNP:

rs121434296

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:

rs121434296

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

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

0.800

GeneticVariation

CLINVAR

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae.

10551815

1999

dbSNP:

rs121434296

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:

rs121434296

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C1856058
Disease:

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

0.800

GeneticVariation

CLINVAR

Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

8940272

1996

dbSNP:

rs121434296

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:

rs121434296

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