Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE Moreover, plasma homocysteine levels were significantly higher in methylenetetrahydrofolate reductase 677TT genotype compared to 677CT and 677CC genotypes in both cerebral venous thrombosis patients (P = 0.01) and controls (P = 0.03). 26083986

2015

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE Recurrent cerebral venous thrombosis associated with heterozygote methylenetetrahydrofolate reductase C677T mutation and sickle cell trait without homocysteinemia: an autopsy case report and review of literature. 25074331

2014

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE Role of methylenetetrahydrofolate reductase A1298C polymorphism in cerebral venous thrombosis. 23314385

2013

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE Thrombophilic polymorphisms - factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T - in Tunisian patients with cerebral venous thrombosis. 22721898

2012

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE The authors describe the case of a 12-year-old male with acute lymphoblastic leukemia and a homozygous methylenetetrahydrofolate reductase C677T mutation, who developed subacute methotrexate-induced toxicity and cerebral venous thrombosis after receiving intrathecal methotrexate. 20121554

2010

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE We report a case of cerebral venous thrombosis (CVT) due to tyrotoxicosis in a patient with methylenetetrahydro-folate-reductase (MTHFR) gene polymorphism C677T, (genotype 677TT), in which discontinuation of intravenous heparin was followed by clinical and radiological worsening despite warfarin treatment. 18941937

2008

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE The aim of this study was to evaluate the significance of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and plasminogen activator inhibitor-1 (PAI-1) 4G/5G genotypes in development of childhood cerebral thrombosis (CT). 17456624

2007

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE This study investigates the association between cerebral vein thrombosis (CVT) and the mutations FV 1691A (factor V Leiden), PT 20210A and MTHFR 677TT and acquired factors including oral contraceptive (OC) use. 15528884

2005

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE Through a case-control study, we examined the potential association among homocysteine, folate and vitamin B12 levels, and the common C677-->T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene in patients with cerebral venous thrombosis (CVT). 15192249

2004

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.200 GeneticVariation BEFREE We report three patients with cerebral vein thrombosis (CVT) in which the only risk factor we were able to identify was increased blood homocysteine levels and the C677T polymorphism in both alleles of the methylene tetrahydrofolate reductase MTHFR gene. 12522678

2002