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: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype BEFREE We previously generated mice lacking cystathionine γ-lyase (Cth) as cystathioninuria models and found them to be with cystathioninemia/homocysteinemia. 31319489 2019
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease BEFREE We previously generated mice lacking cystathionine γ-lyase (Cth) as cystathioninuria models and found them to be with cystathioninemia/homocysteinemia. 31319489 2019
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype CLINGEN Methionine excess in diet induces acute lethal hepatitis in mice lacking cystathionine γ-lyase, an animal model of cystathioninuria. 22387178 2012
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 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: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 CausalMutation phenotype CLINVAR Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 GermlineCausalMutation phenotype ORPHANET Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype CLINGEN Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. 20566639 2010
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype MGD Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. 20566639 2010
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 GeneticVariation phenotype BEFREE Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype CLINGEN Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 GeneticVariation disease BEFREE Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 GermlineCausalMutation disease ORPHANET Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease CLINGEN Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. 20566639 2010
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease CLINGEN Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease MGD Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. 20566639 2010
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 CausalMutation phenotype CLINVAR Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S. 19019829 2009
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 GermlineCausalMutation phenotype ORPHANET Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. 19428278 2009
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 CausalMutation phenotype CLINVAR Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. 19428278 2009
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 Biomarker phenotype CLINGEN Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. 19428278 2009
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease CLINGEN Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. 19428278 2009
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 GermlineCausalMutation disease ORPHANET Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. 19428278 2009
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 GeneticVariation phenotype UNIPROT Recently, several mutations in CGL have been described in patients with cystathioninuria, a rare but poorly understood genetic disease. 18476726 2008
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 CausalMutation phenotype CLINVAR Recently, several mutations in CGL have been described in patients with cystathioninuria, a rare but poorly understood genetic disease. 18476726 2008
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.940 GeneticVariation phenotype 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