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 Biomarker disease HPO
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		0.940 Biomarker disease CTD_human
CUI: C0268618
Disease: Cystathioninemia
Cystathioninemia 		0.110 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.100 Biomarker group HPO
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.100 Biomarker disease HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
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: C3495552
Disease: Cystathionase Deficiency
Cystathionase Deficiency 		0.300 Biomarker disease CLINGEN Metabolism of sulfur-containing amino acids. 3524616 1986
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Structural analysis by enzyme cleavage showed that CTH which accumulated in the tumor tissue was Gb3 (Gal alpha 1-4Gal beta 1-4Glc beta 1-Cer). 1693599 1990
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: 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: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.010 Biomarker group BEFREE Also, the availability of a common non-synonymous SNP can allow for testing of association of the CTH gene with biochemical traits affected by trans-sulfuration, such as plasma concentrations of homocysteine or even cystathionine itself, in addition to more downstream clinical phenotypes, such as vascular disease. 12574942 2003
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
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