Disease: Homocystinuria ×
Source: ALL
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 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