Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0021308
Disease: Infarction
Infarction
0.010 GeneticVariation LHGDN Mesenteric venous thrombosis with bowel infarction and hyperhomocysteinemia due to homozygous methylenetetrahydrofolate reductase C677T genotype. 19000982

2009

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.010 GeneticVariation LHGDN The MTHFR C677T polymorphism may not be important in an individual's susceptibility to osteosarcoma and chondrosarcoma in Turkey and may not be a useful marker for identifying patients at high risk of developing sarcomas. 18498722

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0014068
Disease: Encephalomalacia
Encephalomalacia
0.010 GeneticVariation LHGDN Here, we report a premature baby with prenatal onset diffuse multicystic encephalomalacia and cerebellar atrophy due to homozygous methylenetetrahydrofolate reductase mutation. 18539994

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.010 GeneticVariation LHGDN Alcohol drinking and one-carbon metabolism-related gene polymorphisms on pancreatic cancer risk. 18843018

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0270639
Disease: Lateral Sinus Thrombosis
Lateral Sinus Thrombosis
0.010 GeneticVariation LHGDN Bilateral transverse sinus thrombosis secondary to a homozygous C677T MTHFR gene mutation. 18666857

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0333641
Disease: Atrophic
Atrophic
0.010 GeneticVariation LHGDN Diffuse multicystic encephalomalacia in a preterm baby due to homozygous methylenetetrahydrofolate reductase 677 C-->T mutation. 18539994

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 GeneticVariation LHGDN The MTHFR C677T polymorphism may not be important in an individual's susceptibility to osteosarcoma and chondrosarcoma in Turkey and may not be a useful marker for identifying patients at high risk of developing sarcomas. 18498722

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C3714514
Disease: Infection
Infection
0.010 GeneticVariation LHGDN Methylenetetrahydrofolate reductase 677 T allele protects against persistent HBV infection in West Africa. 18222012

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0032962
Disease: Pregnancy Complications
Pregnancy Complications
0.010 GeneticVariation LHGDN Evaluation of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase gene mutations in patients with severe pregnancy complications in northern Finland. 16514238

2006

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151526
Disease: Premature Birth
Premature Birth
0.010 GeneticVariation LHGDN Polymorphisms in folate metabolizing genes and risk for spontaneous preterm and small-for-gestational age birth. 17074544

2006

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
0.010 GeneticVariation LHGDN Prevalence of hyperhomocysteinemia in adult gluten-sensitive enteropathy at diagnosis: role of B12, folate, and genetics. 15952099

2005

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.010 GeneticVariation LHGDN Takayasu arteritis with high titre of antiphospholipid antibodies and MTHFR Polymorphism. 16133896

2005

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage
0.010 GeneticVariation LHGDN We investigated relationships between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, and plasma levels of HCY and folate in patients of Mongolian races who suffered from cerebral ischemia (CI, n = 42) or cerebral hemorrhage (CH, n = 20) and in the 24 age-matched controls. 15829163

2005

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0155305
Disease: Optic Neuropathy, Ischemic
Optic Neuropathy, Ischemic
0.010 GeneticVariation LHGDN Nonarteritic anterior ischemic optic neuropathy: associations with homozygosity for the C677T methylenetetrahydrofolate reductase mutation. 15007309

2004

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
0.010 GeneticVariation LHGDN The APO E 2/2 and 2/3 or APO E 4/4 and 4/3 genotypes in combination with the MTHFR 677TT or ACE D/D mutation exhibited independent genetic risks of leukoaraiosis. 14763962

2004

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0029445
Disease: Bone necrosis
Bone necrosis
0.010 GeneticVariation LHGDN The 677C-->T mutation of the methylene-tetrahydrofolate reductase gene in the pathogenesis of osteonecrosis of the femoral head. 11801474

2002

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.010 GeneticVariation LHGDN Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome. 12221667

2002

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases
0.020 GeneticVariation LHGDN MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians. 17899317

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.020 GeneticVariation LHGDN The MTHFR C677T polymorphism may not be important in an individual's susceptibility to osteosarcoma and chondrosarcoma in Turkey and may not be a useful marker for identifying patients at high risk of developing sarcomas. 18498722

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.020 GeneticVariation LHGDN MTHFR C677T polymorphism in chronic pancreatitis and pancreatic adenocarcinoma. 18636416

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases
0.020 GeneticVariation LHGDN B-group vitamins, MTHFR C677T polymorphism and carotid intima-media thickness in clinically healthy subjects. 17228344

2007

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.020 GeneticVariation LHGDN Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and the risk of primary hepatocellular carcinoma (HCC) in a Chinese population. 17503006

2007

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0032584
Disease: polyps
polyps
0.020 GeneticVariation LHGDN Folate status and risk of colorectal polyps in African Americans. 17372834

2007

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.020 GeneticVariation LHGDN Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East. 17712558

2007

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.020 GeneticVariation LHGDN Methylenetetrahydrofolate reductase C677T polymorphism in adult patients with lymphoproliferative disorders and its effect on chemotherapy. 16944145

2006