rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE Our meta-analysis establishes that the MTHFR 677C>T polymorphism as a high-penetrant risk factor for VC in SCD patients. 30686687 2019
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE We investigated <i>MTHFR</i> C677T polymorphism in SCD patients and found that the distribution of <i>MTHFR</i> C677T genotypes was significantly different between SCD patients and age-matched controls. 30687218 2018
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c. 677C>T) and cystathionine β-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia (SCA) patients and on routine markers, correlating them with hydroxycarbamide (HC) treatment. 28188925 2017
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India. 23869056 2015
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE MTHFR C677T and FVL G1691A polymorphisms may be risk factors for increased vascular complications in patient with SCD. 23992124 2013
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease. 22924497 2012
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD. 16906320 2006
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia. 15224376 2004
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE Fasting and postmethionine load (PML) homocysteine, red cell folate, and the MTHFR C677T mutation were determined in 77 patients with SCD and 110 African-American controls. 12142786 2002
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE The methylenetetrahydrofolate reductase gene C677T polymorphism in patients with homozygous sickle cell disease and stroke. 10583261 1999
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE The prevalence of homozygosity for the C677T MTHFR variant was 5% in the patients with SCD. 10524453 1999
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.100 GeneticVariation BEFREE The prevalence of the prothrombin gene variant (allele 20.210 A), factor V Leiden mutation, and homozygosity for transition 677C-->T in the methylenetetrahydrofolate reductase (MTHFR) gene was determined among patients with sickle cell disease (SCD). 9723576 1998