Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE our study suggests that HHcy is a possible risk factor for RVT development, while no association was found between RVT and the C677T MTHFR genotype. 19825913 2010
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The 677 C-T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with hyperhomocysteinaemia. 16181277 2005
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Homozygous polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and resultant hyperhomocysteinaemia have been established as an independent risk factor for vascular diseases. 17618244 2009
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygous MTHFR gene C677T (G80A-RFC1) mutations without associated hyperhomocysteinemia (the latter factor is usually considered as effector of vascular damage in patients with MTHFR C677T mutations). 18958479 2009
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The gene for methylenetetrahydrofolate reductase (MTHFR) has two different alleles (C and T), where the T is associated with decreased enzyme activity, hyperhomocysteinaemia, and increased risk for thromboembolism in coronary heart disease (CHD). 15458711 2004
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The methylenetetrahydrofolate reductase (MTHFR) C677T genotype, a common polymorphism that induces hyperhomocysteinaemia, has been proposed as a genetic risk factor for cardiovascular disease. 15837084 2005
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE MTHFR C677T mutation may contribute to hypertension or affect the development of hypertension through hyperhomocysteinemia. 18855261 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Moreover, the homozygous mutation (C677T) of the methylene tetrahydrofolate reductase (MTHFR) gene, related to a thermolabile type of the encoded enzyme, causes hyperhomocysteinemia by reducing the 5-methyltetrahydrofolate availability. 11721146 2002
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE These data suggest that both MTHFR C677T and eNOS G894T variants should be regarded as genetic risk factors for hyperhomocysteinemia in patients with cognitive decline. 21607713 2011
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Some polymorphisms observed on the MTHFR gene cause inactivation of the MTHFR enzyme, leading to hyperhomocysteinemia and homocysteinuria, which are prominent risk factors of cardiovascular and cerebrovascular diseases. 28481466 2018
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE No association was found between Hhcy and C677T polymorphism in the MTHFR gene. 19083485 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Because they have been described as strong risk factors for idiopathic recurrent pregnancy losses (RPLs), we assessed the association between the methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs) C677T and A1298C and hyperhomocysteinemia in Tunisian women with idiopathic RPL. 16452733 2006
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The objectives of this study were: to determine plasma total homocysteine tHcy levels and the prevalence of hyperhomocysteinemia in children with type 1 diabetes, to determine correlates of plasma tHcy levels with nutritional factor such as serum folic acid and vitamin B12 levels, genetic factors as methylenetetrahydrofolate reductase MTHFR gene polymorphism (C677T and A1298C), to attempt to identify possible dependencies between tHcy and the degree of metabolic control, the duration of the disease and presence of complications, and also to determine the relationship between other coronary risk factors. 16401615 2006
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. 8554066 1996
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The C677T mutation in the MTHFR gene has recently been described as a cause of mild hyperhomocysteinemia. 11124649 2000
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE We conclude that HHcy and MTHFR C677T genotype are positively associated with arterial and venous thrombotic disease in the population of North Western Russia. 14698652 2003
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE In patients with MTHFR (methylenetetrahydrofolate reductase) mutations and hyperhomocysteinemia, recurrent pregnancy loss is a frequent feature. 28689805 2017
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease BEFREE Since hyperhomocysteinemia seems to be determined by both genetic and environmental factors, we studied the interactions between MTHFR (phenotype and genotype) and folate status, including methyltetrahydrofolate (methylTHF), the product of MTHFR, on the homocysteine concentration in 52 healthy subjects, (28 women and 24 men; mean age, 32.7 years). 9826223 1998
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Indeed, a mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) gene influences Hcy metabolism and, therefore, MTHFR C677T polymorphism provokes hyperhomocysteinaemia. 16299146 2005
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE It suggests that MTHFR C677T mutation is associated with hyperhomocysteinemia in the ischemic CRVO in the Chinese population. 17719079 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE In conclusion, the results of the current study suggest that hyperhomocysteinemia and the homozygous 677TT MTHFR genotype are risk factors for VTE. 22992862 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE In this cohort of US children with VTE or AIS, neither the prevalence of hyperhomocysteinemia nor that of MTHFR variant was increased relative to reference values, and adverse thrombus outcomes were not definitively associated with either. 23866722 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The C677T MTHFR polymorphism is associated with mild hyperhomocysteinemia, but only in the presence of low folate status. 11823591 2002
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Both the MTHFR 677TT genotype and the MTHFR 1793A allele were not associated with hyperhomocysteinemia. 17065574 2006
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease BEFREE Methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in the hyperhomocysteinemia, which is a risk factor related to the occurrence of congenital heart defect (CHD). 29202788 2017