CTH, cystathionine gamma-lyase, 1491

N. diseases: 93; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		0.810 GeneticVariation BEFREE Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		T 0.810 CausalMutation CLINVAR Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		T 0.810 CausalMutation CLINVAR Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. 19428278 2009
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		T 0.810 CausalMutation CLINVAR Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S. 19019829 2009
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		0.810 GeneticVariation UNIPROT Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. 18476726 2008
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		T 0.810 CausalMutation CLINVAR Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. 18476726 2008
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		0.810 GeneticVariation UNIPROT Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). 12574942 2003
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		T 0.810 CausalMutation CLINVAR Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). 12574942 2003
dbSNP: rs28941786
rs28941786
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		0.800 GeneticVariation UNIPROT Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. 18476726 2008
dbSNP: rs28941786
rs28941786
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		0.800 GeneticVariation UNIPROT Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). 12574942 2003
dbSNP: rs28941786
rs28941786
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		G 0.800 CausalMutation CLINVAR
dbSNP: rs17131304
rs17131304
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17131304
rs17131304
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs773107808
rs773107808
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0220993
Disease:
Cystathioninuria 		T 0.700 GeneticVariation CLINVAR Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). 12574942 2003
dbSNP: rs1021737
rs1021737
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE In subsequent univariate analyses, participants with variant rs1021737 genotype had a decreased risk of KRAS-mutated CRC (OR per allele = 0.72, 95% CI = 0.50, 1.05), and an increased risk of BRAF-mutated CRC (OR per allele = 1.56, 95% CI = 1.07, 2.30), with weak evidence for heterogeneity (Pheterogeneity = 0.01). 29694444 2018
dbSNP: rs28941785
rs28941785
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0268616
Disease:
Gamma-cystathionase deficiency 		0.010 GeneticVariation BEFREE Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
dbSNP: rs1021737
rs1021737
Entrez Id: 1491
Gene Symbol: CTH
CTH
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. 18701025 2008