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 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 Biomarker disease CLINGEN GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH). 25736695 2015
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 CausalMutation disease CLINVAR Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 Biomarker disease MGD GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH). 25736695 2015
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 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 We concluded that mutations in both GLDC and AMT genes are the main cause of GCE in Malaysian population. 25231368 2014
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE 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 Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene. 24731848 2014
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia. 23349517 2014
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE We report DWI-ADC changes on MRI in the acute stages of neonatal nonketotic hyperglycinemia (NKH) due to sequence changes in GLDC gene. 23712728 2013
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 Genetic testing detected a known and a novel mutation in the glycine decarboxylase gene, leading to the classic form of glycine encephalopathy. 22610665 2012
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 CausalMutation disease CLINVAR Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. 22171071 2012
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE Two novel heterozygous missense mutations (c.1130C>T (p.A377V) and c.2081_2088del (p.A694DfsX11) in exons 8 and 18) in the glycine decarboxylase gene confirmed the diagnosis of nonketotic hyperglycinemia. 22633639 2012
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE We herein describe two novel laboratory tests for diagnosis of GE, [1-(13)C]glycine breath test and the multiplex ligation-dependent probe amplification (MLPA) for detection of large deletions in GLDC. 21470805 2011
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. 20691948 2010
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR A novel missense mutation in a neonate with nonketotic hyperglycinemia. 20933183 2010
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE The diagnosis of nonketotic hyperglycinemia was made biochemically and was confirmed by genetic studies, which revealed two missense mutations (one not previously described) within the glycine decarboxylase gene, GLDC. 20933183 2010
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 Biomarker disease CLINGEN Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia. 18941301 2008
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 Biomarker disease CTD_human NKH is caused by deficiency of the glycine cleavage multienzyme system with three specific components encoded by GLDC, AMT and GCSH. 17361008 2007
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease BEFREE GLDC deletions are a significant cause of NKH, and the MLPA analysis is a valuable first-line screening for NKH genetic testing. 17361008 2007
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		1.000 GeneticVariation disease CLINVAR NKH is caused by deficiency of the glycine cleavage multienzyme system with three specific components encoded by GLDC, AMT and GCSH. 17361008 2007