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 GeneticVariation disease CLINVAR Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. 15272469 2004
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 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 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 Patients with PSS compared to normal subjects had significantly lower percentages of CD3+ (p less than 0.005) and CD8+ (p less than 0.05) (similar to several patients with rheumatoid arthritis also evaluated), as well as CD45R (p less than 0.05), T+DR+ (p less than 0.05), and NKH-1 (CD56) (p less than 0.0005) cells. 2013671 1991
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease UNIPROT 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 CausalMutation disease CLINVAR Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. 10873393 2000
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease BEFREE Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by the defects in the glycine cleavage system (GCS; EC 2.1.2.10), a multienzyme system that consists of four individual components. 1634607 1992
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 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 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. 10873393 2000
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation disease UNIPROT Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). 11286506 2001
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 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 Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia. 11139253 2001
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 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 Immunophenotyping showed that most of the large granular lymphocytes (LGLs) were CD3-, CD16-, and NKH-1 (Leu-19)+ lymphocytes. 1695480 1990
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 CausalMutation disease CLINVAR Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). 12948742 2003
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 Biomarker disease BEFREE Nonketotic hyperglycinemia (NKH) is an inborn error of glycine degradation causing muscular hypotonia, seizures, apnea, and lethargy; it has a poor prognosis. 8657542 1996
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.800 GeneticVariation 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 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 GeneticVariation disease UNIPROT Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. 10873393 2000
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