Gene: GLDC ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 Biomarker disease CLINGEN Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. 1996985 1991
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). 12126939 2002
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene. 28325525 2017
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease UNIPROT 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: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 CausalMutation disease CLINVAR Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. 10873393 2000
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease UNIPROT Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. 1996985 1991
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 CausalMutation disease CLINVAR Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. 15272469 2004
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 CausalMutation disease CLINVAR A P-protein (glycine decarboxylase or GLDC) deficiency was reported in about 80% of NKH patients. 16601880 2006
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 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: 2731
Gene Symbol: GLDC
GLDC 		1.000 CausalMutation disease CLINVAR Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients. 15192636 2004
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE GLDC deletions were identified in approximately 20% of NKH mutant alleles and resulted in a severe neonatal form of the disease. 18549703 2008
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE In this study, we describe the screening of the entire GLDC gene in 3 NKH families by D-HPLC analysis of all 25 exons, identifying two point mutations and two large deletions (exon 8 and exons 2-15) using a combination of D-HPLC analysis, long range PCR, Southern blot and sequencing. 15670722 2005
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 Biomarker disease CLINGEN The patient was found to have glycine encephalopathy resulting from a previously defined mutation in the GLDC gene. 24407464 2014
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed. 28244183 2017
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 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: 2731
Gene Symbol: GLDC
GLDC 		1.000 CausalMutation disease CLINVAR Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia. 26749113 2016
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 Biomarker disease CLINGEN Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed. 28244183 2017
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR Two novel missense mutations observed in nonketotic hyperglycinemia. 22633639 2012
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE The in vitro expression analysis of the identified GLDC mutations revealed considerable residual enzyme activity, suggesting prognostic and enzymatic heterogeneity even in neonatal-onset nonketotic hyperglycinemia. 15192636 2004
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE A P-protein (glycine decarboxylase or GLDC) deficiency was reported in about 80% of NKH patients. 16601880 2006
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease UNIPROT Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. 28737873 2017
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 CausalMutation disease CLINVAR The patient was found to have glycine encephalopathy resulting from a previously defined mutation in the GLDC gene. 24407464 2014
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). 12126939 2002
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913 2017