GNMT, glycine N-methyltransferase, 27232

N. diseases: 57; N. variants: 5
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease CLINGEN Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? 27207470 2017
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease MGD Characterization of a glycine N-methyltransferase gene knockout mouse model for hepatocellular carcinoma: Implications of the gender disparity in liver cancer susceptibility. 19035462 2009
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 GermlineCausalMutation disease ORPHANET Inherited disorders in the conversion of methionine to homocysteine. 19585268 2009
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease CLINGEN Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver. 17937387 2007
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease MGD Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver. 17937387 2007
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease CLINGEN A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzyme. 16779654 2006
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease MGD A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzyme. 16779654 2006
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease CLINGEN Also discussed is the metabolic role of GNMT; several additional metabolite abnormalities found in these patients; and remaining questions about human GNMT deficiency, such as the long-term prognosis, whether other individuals with this defect are currently going undetected, and means to search for such persons. 14739680 2003
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 GeneticVariation disease UNIPROT Also discussed is the metabolic role of GNMT; several additional metabolite abnormalities found in these patients; and remaining questions about human GNMT deficiency, such as the long-term prognosis, whether other individuals with this defect are currently going undetected, and means to search for such persons. 14739680 2003
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease GENOMICS_ENGLAND Also discussed is the metabolic role of GNMT; several additional metabolite abnormalities found in these patients; and remaining questions about human GNMT deficiency, such as the long-term prognosis, whether other individuals with this defect are currently going undetected, and means to search for such persons. 14739680 2003
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 GeneticVariation disease UNIPROT Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. 11810299 2002
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease CTD_human Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. 11810299 2002
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease CLINGEN Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia. 11596649 2001
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease CTD_human Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia. 11596649 2001
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 Biomarker disease CLINGEN Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma. 11131452 2000
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		0.900 CausalMutation disease CLINVAR