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: 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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 Biomarker disease CTD_human Overall, our findings suggest that reduced Gnmt expression caused by promoter hypermethylation is one of the key molecular events in the development of NAFLD-derived HCC and that assessing Gnmt methylation level may be useful for disease stratification. 31086990 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 Biomarker disease BEFREE The protective role of GNMT in the liver allows GNMT to not only serve as a marker of liver disease, but also potentially be applied in the treatment of liver disorders and hepatocellular carcinoma. 31170416 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 PosttranslationalModification disease BEFREE Recently, we identified 1,2,3,4,6-penta-O-galloyl-beta-D-glucopyranoside (PGG) as a GNMT promoter enhancer compound in HCC. 30760754 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 Biomarker disease BEFREE The loss of liver glycine N-methyltransferase (GNMT) promotes liver steatosis and the transition to hepatocellular carcinoma (HCC). 30850319 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 PosttranslationalModification disease BEFREE Overall, our findings suggest that reduced Gnmt expression caused by promoter hypermethylation is one of the key molecular events in the development of NAFLD-derived HCC and that assessing Gnmt methylation level may be useful for disease stratification. 31086990 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 AlteredExpression disease BEFREE The levels of miR-224 and GNMT mRNA showed a significant inverse relationship in tumor specimens from HCC patients. 30115977 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 AlteredExpression disease BEFREE GNMT downregulation leads to loss of liver function progressing to fibrosis, cirrhosis, and hepatocellular carcinoma. 30237481 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 Biomarker disease BEFREE In this study, we investigated the activity of ectopic GNMT delivered using recombinant adeno-associated virus (AAV) gene therapy in mouse models of liver cirrhosis and HCC. 30217986 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.600 Biomarker disease BEFREE These results reveal a novel mechanism in which GNMT participates in AKT signaling and HCC tumorigenesis by promoting HectH9-mediated PREX2 degradation. 28205209 2017