Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. 29326875

2018
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. 29352562

2018
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 GeneticVariation 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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation 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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C. 26464485

2015
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR A forgotten lethal psychosis: a case report. 23812867

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 GeneticVariation 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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis. 25516723

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. 24211323

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation 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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 GeneticVariation 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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 GeneticVariation 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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation 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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Conformational properties of nine purified cystathionine β-synthase mutants. 22612060

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. 21517828

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 GeneticVariation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. 22069143

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 GeneticVariation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Vascular presentation of cystathionine beta-synthase deficiency in adulthood. 20567906

2011
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. 20490928

2011
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation 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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		0.100 CausalMutation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010