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 CausalMutation disease CLINVAR 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 		0.100 CausalMutation disease CLINVAR [Hospital outbreak of salmonellosis with secondary cases]. 2056790 1991
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 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 A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293 1995
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. 7635485 1995
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR 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 		0.100 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 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 Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. 8755636 1996
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations. 8803779 1996
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 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 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 Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method. 9708897 1998
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria. 9870207 1998
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 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 		0.100 GeneticVariation disease CLINVAR Cystathionine beta-synthase mutations in homocystinuria. 10338090 1999
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Cystathionine beta-synthase mutations in homocystinuria. 10338090 1999
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. 10364517 1999
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR 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 		0.100 CausalMutation disease CLINVAR Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. 11359213 2001
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. 11434706 2001
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 CausalMutation disease CLINVAR Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency. 11774777 2001