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 There are limited data on the role of methylenetetrahydrofolate reductase C677T polymorphism and hyperhomocysteinemia as risk factors for cerebral venous thrombosis in Iranian population. 26083986 2015
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Of the 58 patients, 30 had factor V Leiden mutation (5 homozygous, 25 heterozygous), 16 had prothrombin gene mutation, 24 had methylenetetrahydrofolate reductase C677T mutation (5 homozygous, 19 heterozygous), 18 had protein C deficiency, 17 had protein S deficiency, 14 had antithrombin III deficiency and 13 had hyperhomocysteinaemia. 25326427 2015
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE to investigate if NAFLD, in subjects referred for nutritional assessment and counselling, has any difference of prevalence and severity when associated with isolated MTHFR A1298C polymorphism and hyperhomocysteinemia. 24488901 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE A thrombophilic evaluation was performed, revealing hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) variants (C677T and A1298C). 24923843 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms, which are associated with hyperhomocysteinemia and nitric oxide (NO) deficiency (which is related to atherothrombosis and cerebral ischemia), have not been studied in moyamoya disease. 25098357 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Hyperhomocysteinemia induced by the C677T genetic variant in MTHFR (methylenetetrahydrofolate reductase) has been implicated in neuronal cell death of retinal ganglion cells (RGC), which is a characteristic feature of glaucoma. 25054348 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Methylenetetrahydrofolate reductase (MTHFR) gene inactivation was recognized as a predisposing factor of hyperhomocysteinemia in renal patients. 24363223 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE 5,10-methylenetetrahydrofolate reductase (MTHFR) is a folate-dependent enzyme that catalyzed remethylation of homocysteine (Hcy) and the MTHFR C677T polymorphism makes the MTHFR enzyme thermolabile causing hyperhomocysteinemia. 24052451 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The TT genotype of the MTHFR C677T polymorphism was associated with hyperhomocysteinemia (p < 0.001), but not with SVD (p = 0.182) or LVD (p = 0.988) scores. 25031284 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE None of the five cases of heterozygous C677T MTHFR polymorphism had hyperhomocysteinemia. 23337710 2013
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 Recent meta-analyses have disproven an association between hyperhomocysteinemia and risk for coronary heart disease and between MTHFR polymorphism status and risk for venous t-hromboembolism. 23288205 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The MTHFR C677T and A1298 polymorphisms (individually or in concert) and hyperhomocysteinemia represent important risk factors for IS. 23642756 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification CYP1A1 (rs2606345, rs4646903, and rs1048943), GSTM1 (Ins/del), GSTT1 (Ins/del), ABCB1 rs1045642); immune and inflammation response IL-6 (rs1800795), TNF-a (rs1800629), MBL2 (rs7096206), CCR5 (rs333), NOS3 (rs1799983), angiotensin-converting enzyme ACE (rs4340), and occlusive vascular disease/hyperhomocysteinemia MTHFR (rs1801133). 23107763 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The substitution of cytosine for thymine at the position 677 of the MTHFR gene leads to formation of the thermolabile form of the protein and development of hyperhomocysteinemia, which increases the probability of migraine. 23915182 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Association of methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism with hyperhomocysteinemia, renal failure, and cardiovascular events is controversial. 23534584 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The patient was homozygous for the MTHFR thermolabile variant, but markedly elevated hyperhomocysteinemia led us to investigate the whole MTHFR gene, which revealed two novel MTHFR mutations. 23526309 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE To this purpose we have used platelets harvested from healthy volunteers or patients newly diagnosed with hyperhomocysteinemia with a C677T polymorphism of the MTHFR gene (MTHFR++). 24019484 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The present study attempts to understand the role of methylenetetrahydrofolate reductase C677T (MTHFR C677T) in recurrent pregnancy losses in North Indian women because of hyperhomocysteinemia in light of serum folate and vitamin B₁₂. 23612630 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE To analyze associations between homocysteine level, MTHFR and FTO rs1477196 polymorphisms and folate status in patients with breast cancer (BC) in order to clarify determinants of hyperhomocysteinemia. 24023349 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE The OR of hyperhomocysteinaemia were 1.52 (95 % CI 1.39, 1.67) and 2.32 (95 % CI 2.07, 2.61) for participants aged 55-65 and 65-75 v. 45-55 years; 1.27 (95 % CI 1.18, 1.37) for participants with a BMI ≥ 25 v. < 25 kg/m²; 1.14 (95 % CI 1.06, 1.23) for participants with v. without antihypertensive treatment; 1.09 (95 % CI 1.00, 1.18) for residents inland v. coastal; 0.89 (95 % CI 0.82, 0.97) and 0.83 (95 % CI 0.74, 0.92) for participants with moderate and high v. low physical activity levels; 1.54 (95 % CI 1.41, 1.68) and 2.47 (95 % CI 2.17, 2.81) for participants with a glomerular filtration rate 60-90 and < 60 v. ≥ 90 ml/min per 1.73 m²; and 1.20 (95 % CI 1.07, 1.35) and 3.81 (95 % CI 3.33, 4.36) for participants with CT and TT v. CC genotype at methylenetetrahydrofolate reductase 677C>T polymorphism, respectively. 22850357 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711 2013
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. 21878957 2012
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 A 26-year-old woman affected by CD with secondary amenorrhea, carrier of a homozygous 5,10-methylenetetrahydrofolate reductase mutation with hyperhomocysteinemia, was affected by two occipital ischemic strokes within a period of 5 mo. 22807619 2012