CTH, cystathionine gamma-lyase, 1491

N. diseases: 93; N. variants: 5
Disease: Cystathionase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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