Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. 23835272 2013
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. 21863277 2012
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 GermlineCausalMutation disease ORPHANET 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. 21863277 2012
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 GeneticVariation disease UNIPROT Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. 10947204 2000
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease. 10971205 2000
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. 10947204 2000
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 CausalMutation disease CLINVAR
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 GeneticVariation disease CLINVAR
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		0.700 Biomarker disease CTD_human