Gene: CBS ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 12124992 2002
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM. 22985361 2013
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 25218699 2015
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Vascular and connective tissue features in 5 Italian patients with homocystinuria. 18280597 2009
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339 2011
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. 23733603 2013
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 23974653 2014
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Cystathionine beta-synthase mutations in homocystinuria. 10338090 1999
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. 9156316 1997
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502 2012
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 GeneticVariation disease CLINVAR Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. 9587029 1998
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. 7581402 1995
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Conformational properties of nine purified cystathionine β-synthase mutants. 22612060 2012
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. 18708589 2008
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. 9889017 1998
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 12124992 2002
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402 2006
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase. 8744616 1996
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. 20066033 2010
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR 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 		0.100 CausalMutation disease CLINVAR 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 		0.100 CausalMutation disease CLINVAR Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. 9156316 1997
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833 2005
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. 7506602 1993
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR A forgotten lethal psychosis: a case report. 23812867 2014