DMGDH, dimethylglycine dehydrogenase, 29958

N. diseases: 15; N. variants: 25
Disease: Dimethylglycine Dehydrogenase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 GeneticVariation disease UNIPROT Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant. 27486859 2016
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R. 18937046 2008
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. 11231903 2001
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. 11231903 2001
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 GeneticVariation disease UNIPROT Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. 11231903 2001
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. 10102904 1999
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. 9398858 1997
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 CausalMutation disease CLINVAR
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		0.700 Biomarker disease CTD_human