GNMT, glycine N-methyltransferase, 27232

N. diseases: 57; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia
0.400 Biomarker phenotype CTD_human Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. 11810299 2002
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia
0.400 Biomarker phenotype CTD_human Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia. 11596649 2001
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia
0.400 Biomarker phenotype HPO