Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.460 GeneticVariation disease BEFREE Our study expands the knowledge of the phenotypic and genotypic variability of the cblE type of homocystinuria and supports the concept that this disorder is caused by mutations in the MTRR gene. 12555939 2002
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.460 Biomarker disease BEFREE Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 9501215 1998
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.460 GeneticVariation disease BEFREE cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 15714522 2005
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.460 GeneticVariation disease BEFREE The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon. 25878036 2015
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.460 GeneticVariation disease BEFREE CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. 12971424 2003
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.460 GeneticVariation disease BEFREE Methionine synthase reductase (MTRR) is the locus of the cblE class of inborn errors of cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria. 17554763 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 GeneticVariation disease BEFREE MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer. 20549016 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 GeneticVariation disease BEFREE This case-control study enrolled 105 new cases of CRC, 101 of colorectal adenoma (CRA), and 182 controls from hospitals in Bangkok, Thailand, to examine the association between folate status and methylenetetrahydrofolate reductase (MTHFR) 677C > T, methionine synthase (MTR) 2756A > G, and methionine synthase reductase (MTRR) 66A > G with the risk of CRC and CRA. 31740010 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 GeneticVariation disease BEFREE In the present study, we have assessed the association of six polymorphisms and relative haplotypes in the MTHFR gene (rs1801133 and rs1801131) and in the MTRR gene (rs1801394, rs1532268, rs162036, and rs10380) with the risk for colorectal cancer in 666 patients and 1377 controls from the Czech Republic. 21211571 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 Biomarker disease BEFREE The polymorphisms in methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and the risk of colorectal cancer. 22719222 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 GeneticVariation disease BEFREE MTRR rs1801394 and its interaction with MTHFR rs1801133 in colorectal cancer: a case-control study and meta-analysis. 28691890 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 GeneticVariation disease BEFREE MTRR polymorphism interacted with the association of folate (P for interaction = 0.04) or vitamin (P for interaction = 0.02) with colorectal cancer, although the other polymorphisms did not interact with any nutrient intake. 16351505 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 GeneticVariation disease BEFREE The MTR and MTRR polymorphisms were unrelated to colorectal cancer risk. 24377513 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 GeneticVariation disease BEFREE Our pooled data suggest an association between MTRR A66G polymorphism and CRC susceptibility among Caucasians. 26214647 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.390 GeneticVariation disease BEFREE This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). 12020105 2002
Childhood Acute Lymphoblastic Leukemia
0.370 GeneticVariation disease BEFREE The GG genotype of the rs3776455 SNP in the MTRR gene was associated with a significantly reduced risk to ALL (p = 1.21×10(-3); OR = 0.55), which resulted mainly from the reduced risk to B-cell and hyperdiploid-ALL. 23940529 2013
Childhood Acute Lymphoblastic Leukemia
0.370 GeneticVariation disease BEFREE In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric patients with ALL. 15797993 2005
Childhood Acute Lymphoblastic Leukemia
0.370 GeneticVariation disease BEFREE The increase in risk of adult ALL with the RFC1 80AA associated with the MTRR 66GG variant was even more significant (OR = 8.92; 95% CI 1.97-40.42). 21657963 2011
Childhood Acute Lymphoblastic Leukemia
0.370 Biomarker disease BEFREE We analysed common genetic polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR), thymidylate synthase (TS), methionine synthase (MS) and methionine synthase reductase (MTRR) in 68 children with ALL and 258 healthy controls to investigate their influence on the risk for ALL. 17454638 2007
Childhood Acute Lymphoblastic Leukemia
0.370 GeneticVariation disease BEFREE The MTHFR 677C>T SNP and the MTRR 66A >G SNP were identified as determinants of impaired BMD(TB) in childhood ALL patients. 20955826 2011
Childhood Acute Lymphoblastic Leukemia
0.370 AlteredExpression disease BEFREE We conclude that abnormal MTRR mRNA expression and the methylation of the MTRR promoter can be used to classify the risk of ALL in children. 31002356 2019
Childhood Acute Lymphoblastic Leukemia
0.370 GeneticVariation disease BEFREE However, the results of stratified analyses revealed that MTRR A66G GG genotype was associated with decreased leukemia risk in the Caucasian population, in children and for acute lymphoblastic leukemia (ALL). 24261678 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.370 GeneticVariation disease BEFREE The association of variants of the gene encoding methionine synthase reductase (MTRR) with hyperhomocysteinemia, folate and Vitamin B(12) status in kidney graft recipients is unknown. 15135249 2004
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.370 Biomarker disease BEFREE Methionine synthase reductase (MTRR) plays a major role in hyperhomocysteinemia, a risk factor related to the occurrence of congenital heart defects (CHDs). 24913415 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.370 Biomarker disease BEFREE Methionine synthase reductase (MSR) deficiency is an autosomal recessive disorder of folate/cobalamin metabolism leading to hyperhomocysteinemia, hypo- methioninemia and megaloblastic anemia. 10484769 1999