CTH, cystathionine gamma-lyase, 1491

N. diseases: 93; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 GeneticVariation disease BEFREE Each affected child was homozygous for the novel DGUOK p.D255Y mutation, but had no CTH mutation, indicating that the hepatocerebral form of MDS might be associated with secondary cystathioninuria. 15887277 2005
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype BEFREE From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 CausalMutation phenotype CLINVAR From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 GeneticVariation phenotype CLINVAR From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 GeneticVariation phenotype UNIPROT From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype CLINGEN From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease BEFREE From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease CLINGEN From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype CLINGEN Metabolism of sulfur-containing amino acids. 3524616 1986
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease CLINGEN Metabolism of sulfur-containing amino acids. 3524616 1986
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease HPO
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease CTD_human
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.310 Biomarker phenotype CTD_human Placental Stem Villus Arterial Remodeling Associated with Reduced Hydrogen Sulfide Synthesis Contributes to Human Fetal Growth Restriction. 28157488 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.310 Biomarker disease CTD_human Role of the cystathionine γ lyase/hydrogen sulfide pathway in human melanoma progression. 25205294 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.310 Biomarker disease BEFREE Role of the cystathionine γ lyase/hydrogen sulfide pathway in human melanoma progression. 25205294 2015
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.310 Biomarker phenotype BEFREE This low CGL reduced cysteine and taurine concentrations in IUGR pigs and led to an accumulation of hepatic cystathionine, with lower homocysteine concentrations. 22137257 2012
CUI: C0035320
Disease: Retinal Neovascularization
Retinal Neovascularization 		0.300 Biomarker phenotype CTD_human Hydrogen Sulfide Contributes to Retinal Neovascularization in Ischemia-Induced Retinopathy. 27273718 2016
CUI: C4017108
Disease: HOMOCYSTEINE, TOTAL PLASMA, ELEVATED
HOMOCYSTEINE, TOTAL PLASMA, ELEVATED 		0.300 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3495552
Disease: Cystathionase Deficiency
Cystathionase Deficiency 		0.300 Biomarker disease CLINGEN Methionine excess in diet induces acute lethal hepatitis in mice lacking cystathionine γ-lyase, an animal model of cystathioninuria. 22387178 2012
CUI: C3495552
Disease: Cystathionase Deficiency
Cystathionase Deficiency 		0.300 Biomarker disease CLINGEN Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C3495552
Disease: Cystathionase Deficiency
Cystathionase Deficiency 		0.300 Biomarker disease CLINGEN Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. 20566639 2010
CUI: C3495552
Disease: Cystathionase Deficiency
Cystathionase Deficiency 		0.300 Biomarker disease CLINGEN Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. 19428278 2009
CUI: C3495552
Disease: Cystathionase Deficiency
Cystathionase Deficiency 		0.300 Biomarker disease CLINGEN Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). 12574942 2003
CUI: C3495552
Disease: Cystathionase Deficiency
Cystathionase Deficiency 		0.300 Biomarker disease CLINGEN Metabolism of sulfur-containing amino acids. 3524616 1986
CUI: C0029531
Disease: Other cataract
Other cataract 		0.200 Biomarker disease RGD Age-associated oxidative damage leads to absence of gamma-cystathionase in over 50% of rat lenses: relevance in cataractogenesis. 15683713 2005