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 a devastating inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme. 30108280 2019
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease BEFREE Nonketotic hyperglycinemia (NKH) is a neuro-metabolic disorder caused by a deficiency in the glycine cleavage system (GCS) and glycine transporter 1 (GlyT1). 31230217 2019
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 GeneticVariation disease BEFREE 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 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 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. 28244183 2017
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease UNIPROT Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. 28244183 2017
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 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 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 CausalMutation disease CLINVAR Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report. 27164344 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease BEFREE Here we describe a case of EME caused by NKH in which a new mutation in aminomethyltransferase (AMT) gene has been detected. 26371980 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease CLINGEN Here we describe a case of EME caused by NKH in which a new mutation in aminomethyltransferase (AMT) gene has been detected. 26371980 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease UNIPROT Here we describe a case of EME caused by NKH in which a new mutation in aminomethyltransferase (AMT) gene has been detected. 26371980 2016
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 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 Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report. 27164344 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease CLINVAR Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015
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 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease BEFREE 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 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 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 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 GeneticVariation disease CLINVAR Using whole-exome sequencing to identify inherited causes of autism. 23352163 2013