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 Hyperhomocysteinaemia (HCA) either due to mutation of MTHFR gene or deficiency of vitamin B 12 and folic acid, has been reported as a risk factor for coronary artery disease (CAD). 22664498 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Hyperhomocysteinemia was found in 12 subjects, and it was statistically associated to the MTHFR 677TT genotype. 22628232 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Oxidative stress and platelet activation in subjects with moderate hyperhomocysteinaemia due to MTHFR 677 C→T polymorphism. 22782530 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE A statically significant, albeit weak, correlation between the MTHFR C677T mutation and hyperhomocysteinemia was found in all three diseases. 22928918 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Mutations in the MTHFR gene lead to hyperhomocysteinemia and vascular thrombosis. 23146986 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Diuretics and genetic polymorphisms in MTHFR and SLCO1B1 were associated with hyperhomocysteinemia. 22425167 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. 22377704 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The C677T heterozygous allele in the MTHFR gene was found to be associated with hyperhomocysteinemia in the patient and other family members. 22665972 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The variant methylenetetrahydrofolate reductase (MTHFR) C677T is associated with elevated homocysteine levels, cardiovascular disease and stroke, which supports a causal relationship between hyperhomocysteinemia and vascular disease. 23285280 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Coenzyme Q10, hyperhomocysteinemia and MTHFR C677T polymorphism in levodopa-treated Parkinson's disease patients. 22354693 2012
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 We found a statistically significant higher frequency of hyperhomocysteinemia in the SSHL group compared with controls, and that this was also associated with the presence of homozygosity for the MTHFR C677T mutation. 20798492 2011
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE We tested the putative association of hyperhomocysteinemia with cancer and the association of the MTHFR c.677TC>T variant with hyperhomocysteinemia and with cancer. 20473868 2011
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE In this cohort of diabetic subjects, mild hyperhomocysteinemia and the MTHFR TT genotype are not significant risk factors for the development of macroangiopathy; impaired renal function was confirmed as a significant predictor of this complication. 19937354 2011
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE To analyse the possible association of HH with the C677T mutation in the MTHFR gene in SVT. 21070369 2011
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The MTHFR c.665C → T variant is associated with mild hyperhomocysteinemia in blood plasma in the TT homozygous state. 20888556 2011
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE MTHFR C677T gene polymorphism associated with a predisposition to hyperhomocysteinemia could constitute a useful predictive marker for ischemic stroke in type 2 diabetic Chinese patients. 19934557 2010
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 Methylenetetrahydrofolate reductase (MTHFR) gene variants and hyperhomocysteinemia have been implicated in the pathogenesis of diabetic nephropathy (DN) in various ethnic groups. 20524928 2010
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE We further studied association of a new polymorphism of MTHFR G1793A with ulcerative colitis and assessed relationship of this polymorphism with hyperhomocysteinemia (HHcy, > or = 15 mmol/L) and deficiency of folate (< or = 7 nmol/L) and vitamin B(12) (< or = 150 pmol/L) in a cohort of patients with ulcerative colitis in central China. 20594233 2010
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE To study the role of the C677T MTHFR mutation with subsequent hyperhomocysteinemia in the determination of ED. 19694922 2010
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The natural coagulation inhibitors PC, PS and AT were significantly reduced in patients with beta-thalassemia major and were thus important risk factors for the hypercoagulable state, but hyperhomocysteinemia and MTHFR mutation do not seem to be significant risk factors for thromboembolic events. 19940469 2010
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE This case-control study examines the potential association among hyperhomocysteinaemia (hyper-Hcy), low serum folate and vitamin B(12) levels and the common C677T mutation of the MTHFR gene in patients with AMVT. 19846322 2010
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE A 31 year old woman with essential hypertension grade III and branch retinal vein occlusion with homozygous C677T MTHFR hyperhomocysteinemia and high Lp(a) levels. 19135738 2010
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease BEFREE Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) genes, involved in the intracellular metabolism of homcysteine, can result in hyperhomocysteinemia. 20939734 2010