Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of metabolism/homeostasis
0.100 Biomarker phenotype HPO
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 GeneticVariation disease BEFREE MTRR-66AA genotype was significantly higher in the control group than the acromegaly group (p=0.004). 26154858 2015
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation disease BEFREE MTHFR and MTRR genetic polymorphisms were not associated with AL. 22706675 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.060 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
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.060 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
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.060 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
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.060 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
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.060 GeneticVariation disease BEFREE Polymorphisms in other folate related genes (MTRR, MTR [MS], TYMS [TS], SLC19A1 [RFC1], NNMT, and SHMT1) are less clearly associated with susceptibility to ALL, and the number of included studies on this subject in this review is limited. 19775302 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.060 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: C0001430
Disease: Adenoma
Adenoma
0.300 Biomarker group CTD_human Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study. 17389618 2007
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.020 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: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.020 GeneticVariation disease BEFREE In addition, the methionine synthase reductase (MTRR) Arg415Cys and MTRR Ser284Thr variant carriers, also in the vitamin B(12) pathway, have suggestive associations with advanced colorectal adenoma (defined as being larger than 1 cm, villous, tubular-villous or carcinoma in situ histology). 17389618 2007
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.300 Biomarker disease CTD_human Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study. 17389618 2007
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic
0.300 Biomarker disease CTD_human Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study. 17389618 2007
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic
0.300 Biomarker disease CTD_human Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study. 17389618 2007
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular
0.300 Biomarker disease CTD_human Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study. 17389618 2007
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.060 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
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.060 GeneticVariation disease BEFREE Finally, those with the MS 2756AG/GG and MTRR 66AG/GG genotypes revealed a 2.2-fold ALL risk reduction (OR 0.45, 95% CI 0.10-0.85). 15159311 2004
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.060 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
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.060 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
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.060 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
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.060 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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 AlteredExpression disease BEFREE ROS content and apoptosis rate increased in control fibroblasts and in a glioblastoma cell line by shRNA-mediated silencing of MTRR gene expression. 22887477 2013
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 GeneticVariation disease BEFREE In addition, we detected potential heterogeneity across alcohol drinking status for ORs relating MTRR rs1801394 to esophageal (posterior homogeneity P = 0.005) and stomach cancer (posterior homogeneity P = 0.004), and ORs relating MTR rs1805087 to liver cancer (posterior homogeneity P = 0.021). 25337902 2014
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
0.030 GeneticVariation disease BEFREE A significant association between risk of meningioma and homozygosity for MTRR 66G was also observed (OR, 1.41; 95% CI, 1.02-1.94). 18483342 2008