DisGeNET - a database of gene-disease associations

MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1, 4522

N. diseases: 121; N. variants: 20

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:

rs2281603

Entrez Id:	4522;7597
Gene Symbol:	MTHFD1;ZBTB25

MTHFD1;ZBTB25

CUI:	C0200635
Disease:

Lymphocyte Count measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs11627387

Entrez Id:	4522;7597
Gene Symbol:	MTHFD1;ZBTB25

MTHFD1;ZBTB25

CUI:	C1853238
Disease:

Conotruncal defect

0.010

GeneticVariation

BEFREE

Our study suggested that MTHFD1 r</span>s11627387 may be associated with risk of conotruncal defects through both maternal and offspring genotype effect among the Hispanics.

22495907

2012

dbSNP:

rs1256146

Entrez Id:	4522;7597
Gene Symbol:	MTHFD1;ZBTB25

MTHFD1;ZBTB25

CUI:	C0027794
Disease:

Neural Tube Defects

0.010

GeneticVariation

BEFREE

The haplotype GGGG, which consists of 4 SNPs (rs2236225, rs2236224, rs1256146, and rs6573559), is also associated with risk of NTDs (P value=0.0438, OR=0.7180, 95% CI=0.5214-0.9888).

26343515

2015

dbSNP:

rs17857382

Entrez Id:	4522;7597
Gene Symbol:	MTHFD1;ZBTB25

MTHFD1;ZBTB25

CUI:	C0027794
Disease:

Neural Tube Defects

0.010

GeneticVariation

BEFREE

However, the other two SNPs (401A>G and 2305C>T) displayed no statistically significant association with NTD risk.

25524527

2015

dbSNP:

rs6573559

Entrez Id:	4522;7597
Gene Symbol:	MTHFD1;ZBTB25

MTHFD1;ZBTB25

CUI:	C0027794
Disease:

Neural Tube Defects

0.010

GeneticVariation

BEFREE

The haplotype GGGG, which consists of 4 SNPs (rs2236225, rs2236224, rs1256146, and rs6573559), is also associated with risk of NTDs (P value=0.0438, OR=0.7180, 95% CI=0.5214-0.9888).

26343515

2015

dbSNP:

rs141210410

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

CausalMutation

CLINVAR

dbSNP:

rs141210410

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

CLINVAR

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

21813566

2011

dbSNP:

rs141210410

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1555336810

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

CausalMutation

CLINVAR

dbSNP:

rs1555336810

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

21813566

2011

dbSNP:

rs1555336810

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

CLINVAR

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.

27707659

2017

dbSNP:

rs1555336810

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.

27707659

2017

dbSNP:

rs1555336810

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

25633902

2015

dbSNP:

rs1555337681

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

21813566

2011

dbSNP:

rs1555337681

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.

27707659

2017

dbSNP:

rs1555337681

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

25633902

2015

dbSNP:

rs1555337681

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

CLINVAR

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

25633902

2015

dbSNP:

rs370444838

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

CausalMutation

CLINVAR

dbSNP:

rs370444838

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

CLINVAR

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

25633902

2015

dbSNP:

rs370444838

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

25633902

2015

dbSNP:

rs370444838

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

21813566

2011

dbSNP:

rs370444838

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4540434
Disease:

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

0.800

GeneticVariation

UNIPROT

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.

27707659

2017

dbSNP:

rs10498514

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0027902
Disease:

Neuropsychological Tests

0.700

GeneticVariation

GWASCAT

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.

19734545

2009

dbSNP:

rs1950902

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0023980
Disease:

Longevity

0.700

GeneticVariation

GWASCAT

Sex Differences in Genetic Associations With Longevity.

30294719

2018

dbSNP:

rs2236225

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C1866558
Disease:

Neural tube defect, folate-sensitive

0.700

GeneticVariation

UNIPROT

A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.

12384833

2002