Gene: CBS ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease UNIPROT Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients. 8990018 1997
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease UNIPROT Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. 7849717 1994
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease UNIPROT Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. 1301198 1992
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease UNIPROT Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833 2005
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease UNIPROT CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. 21240075 2011
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease UNIPROT Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. 9889017 1998
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease UNIPROT Molecular defect in a patient with pyridoxine-responsive homocystinuria. 8353501 1993
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease UNIPROT The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. 7762555 1995
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease UNIPROT Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99. 9266356 1997
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.800 GeneticVariation disease 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