GCSH, glycine cleavage system protein H, 2653

N. diseases: 34; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 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
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 GeneticVariation disease BEFREE Patients with nonketotic hyperglycinemia and deficient glycine cleavage enzyme activity, but without mutations in AMT, GLDC or GCSH, the genes encoding its constituent proteins, constitute a clinical group which we call 'variant nonketotic hyperglycinemia'. 24334290 2014
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 GeneticVariation disease BEFREE Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy. 25231368 2014
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 AlteredExpression disease BEFREE It is sometimes problematic to confirm the diagnosis of GE since it requires either invasive liver biopsy for measurement of GCS activity or exhaustive mutational screening of three GCS genes, GLDC, AMT, and GCSH. 21470805 2011
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 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
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 Biomarker disease GENOMICS_ENGLAND We undertook the first comprehensive screening for GLDC, AMT, and GCSH mutations in 69 families (56, six, and seven families with neonatal, infantile, and late-onset type NKH, respectively). 16450403 2006
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 Biomarker disease BEFREE Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. 16450403 2006
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 Biomarker disease BEFREE Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia. 11450847 2001
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 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
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 Biomarker disease BEFREE Immunophenotyping showed that most of the large granular lymphocytes (LGLs) were CD3-, CD16-, and NKH-1 (Leu-19)+ lymphocytes. 1695480 1990
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 GeneticVariation disease CLINVAR
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.690 Biomarker disease CTD_human
CUI: C0268560
Disease: Hyperglycinemia, Transient Neonatal
Hyperglycinemia, Transient Neonatal 		0.310 Biomarker disease GENOMICS_ENGLAND Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. 16450403 2006
CUI: C0268560
Disease: Hyperglycinemia, Transient Neonatal
Hyperglycinemia, Transient Neonatal 		0.310 GeneticVariation disease BEFREE Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. 12402263 2002
CUI: C0268561
Disease: Hyperglycinemia, Nonketotic, Type I
Hyperglycinemia, Nonketotic, Type I 		0.300 Biomarker disease CTD_human
CUI: C0268562
Disease: Hyperglycinemia, Nonketotic, Type II
Hyperglycinemia, Nonketotic, Type II 		0.300 Biomarker disease CTD_human
CUI: C0751747
Disease: Hyperglycinemia, Nonketotic, Type III
Hyperglycinemia, Nonketotic, Type III 		0.300 Biomarker disease CTD_human
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.100 Biomarker phenotype HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.100 Biomarker group HPO