MTRR, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, 4552
N. diseases: 207; N. variants: 22
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 |
|
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 |
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. | 15714522 | 2005 |
|
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 |
|
0.700 | CausalMutation | disease | CLINVAR | Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. | 9501215 | 1998 |
|
0.700 | GeneticVariation | disease | UNIPROT | Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. | 9501215 | 1998 |
|
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 |
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||
|
0.700 | Biomarker | disease | CTD_human |