Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 CausalMutation disease CLINVAR Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. 25526710 2015
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 Biomarker disease GENOMICS_ENGLAND cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 15714522 2005
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 GeneticVariation disease UNIPROT Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folatecobalamin metabolism. 10484769 1999
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 CausalMutation disease CLINVAR Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 9501215 1998
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 GeneticVariation disease UNIPROT Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 9501215 1998
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 Biomarker disease GENOMICS_ENGLAND Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 9501215 1998
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 		0.700 Biomarker disease CTD_human
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		0.500 Biomarker disease CTD_human
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 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: C0019880
Disease: Homocystinuria
Homocystinuria 		0.460 Biomarker disease CTD_human 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 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 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 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 CTD_human CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. 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 Biomarker disease HPO
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 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 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 The MTR and MTRR polymorphisms were unrelated to colorectal cancer risk. 24377513 2013