Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Our study experimentally supports a deficient regulation of CBS by SAM as a frequently found mechanism in CBS deficiency, which should be considered not only as a valuable diagnostic tool but also as a potential target for the development of new therapeutic approaches in classical homocystinuria. 23974653

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. 23981774

2013
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. 22738154

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. 21240075

2011
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT In summary, our results show that topology of mutations predicts in part the behavior of mutant CBS, and that misfolding may be an important and frequent pathogenic mechanism in CBS deficiency. 20506325

2010
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Molecular analysis of homocystinuria in Brazilian patients. 15993874

2005
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. 15146473

2004
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. 15365998

2004
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. 12815602

2003
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT We determined the molecular basis of CBS deficiency in 36 Australian patients from 28 unrelated families, using direct sequencing of the entire coding region of the CBS gene. 12124992

2002
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. 12007221

2002
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT These data suggest that abnormal folding, impaired heme binding, and aggregation of mutant CBS polypeptides may be common pathogenic mechanisms in CBS deficiency. 11359213

2001
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations. 11553052

2001
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis. 11013450

2000
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. 10408774

1999
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online. 10215408

1998
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. 9889017

1998
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. 9361025

1997
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Background: The continued identfication of new mutations in the cystathionine beta-synthase (CBS) gene is important in correlating the genotype/phenotype of patients with classic homocystinuria and in assessing whether heterozygosity of CBS deficiency is an important cause of mild hyperhomocysteinemia, an independent risk factor for occlusive vascular diseases. 10462600

1997
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation UNIPROT Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. 9156316

1997