Gene: AMT ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease BEFREE Nonketotic hyperglycinemia (NKH) is caused by a mutation in the genes encoding the components of the glycine cleavage multi-enzyme system. 9600239 1998
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease BEFREE A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia. 30350008 2019
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease BEFREE Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH). 27481395 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease CLINGEN Mechanism of the glycine cleavage reaction. Further characterization of the intermediate attached to H-protein and of the reaction catalyzed by T-protein. 6469978 1984
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease UNIPROT A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. 9621520 1998
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease CLINGEN Mechanism of the glycine cleavage reaction. Steady state kinetic studies of the P-protein-catalyzed reaction. 6863283 1983
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease CTD_human GLDC or AMT mutations were identified in 75% of neonatal and 83% of infantile families, but not in late-onset type NKH. 16450403 2006
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease UNIPROT Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia. 16051266 2005
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease UNIPROT Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. 8005589 1994
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 CausalMutation disease CLINVAR The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913 2017
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease CLINVAR Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia. 16051266 2005
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 CausalMutation disease CLINVAR GLDC or AMT mutations were identified in 75% of neonatal and 83% of infantile families, but not in late-onset type NKH. 16450403 2006
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease CLINVAR The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913 2017
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease CLINGEN Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. 8005589 1994
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease CLINVAR Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. 8005589 1994
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease CLINVAR We concluded that mutations in both GLDC and AMT genes are the main cause of GCE in Malaysian population. 25231368 2014
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 CausalMutation disease CLINVAR Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. 22261077 2012
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 CausalMutation disease CLINVAR We concluded that mutations in both GLDC and AMT genes are the main cause of GCE in Malaysian population. 25231368 2014
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease CLINGEN Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 CausalMutation disease CLINVAR Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 29300369 2018
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease CLINVAR Using whole-exome sequencing to identify inherited causes of autism. 23352163 2013
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease BEFREE The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913 2017
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease CLINGEN Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report. 27164344 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 CausalMutation disease CLINVAR Using whole-exome sequencing to identify inherited causes of autism. 23352163 2013