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:

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:

rs1076991

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0155626
Disease:

Acute myocardial infarction

0.020

GeneticVariation

BEFREE

Similarly, low plasma glycine showed stronger risk relationship with AMI</span> in the rs1076991 CC genotype carriers but weaker associations in patients carrying the minor T allele (P<sub>interaction</sub>=0.02).

27872106

2016

dbSNP:

rs1076991

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0155626
Disease:

Acute myocardial infarction

0.020

GeneticVariation

BEFREE

We explored the association between a MTHFD1 polymorphism (rs1076991 C > T) and acute myocardial infarction (AMI), and potential effect modifications by folic acid/B12 and/or vitamin B6 treatment in suspected stable angina pectoris patients (n = 2381) participating in the randomized Western Norway B Vitamin Intervention Trial (WENBIT).

26803590

2016

dbSNP:

rs1076991

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0023452
Disease:

Childhood Acute Lymphoblastic Leukemia

0.010

GeneticVariation

BEFREE

The genotype distribution of the MTHFD1 rs1076991 differed significantly between the ALL and control population.

23940529

2013

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:

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:

rs17824591

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.010

GeneticVariation

BEFREE

Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80).

23893618

2013

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:

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:

rs1950902

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C4721610
Disease:

Carcinoma, Ovarian Epithelial

0.010

GeneticVariation

BEFREE

Lack of association between MTHFD1 G401A polymorphism and ovarian cancer susceptibility.

24287951

2014

dbSNP:

rs1950902

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0338480
Disease:

Common Migraine

0.010

GeneticVariation

BEFREE

The R134K and R653Q variants in MTHFD1 were genotyped in an Australian cohort of 520 unrelated migraineurs (162 were diagnosed with migraine without aura [MO] and 358 with MA) and 520 matched controls.

25039261

2014

dbSNP:

rs1950902

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0699790
Disease:

Colon Carcinoma

0.010

GeneticVariation

BEFREE

Meanwhile, the MTHFD1 G401A might play a protective role in the development of colon cancer.

23894459

2013

dbSNP:

rs1950902

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

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