Source: INFERRED

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 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability. 28488385

2017
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities. 27959664

2016
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. 25331909

2015
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR Structural insight into the molecular mechanism of allosteric activation of human cystathionine β-synthase by S-adenosylmethionine. 25197074

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR 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 CLINVAR Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke. 24138954

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR [Pulmonary embolism in young adults. Think of homocysteine]. 24613005

2014
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 CausalMutation CLINVAR Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors. 23592311

2013
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 22382802

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR 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 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 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: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.800 GeneticVariation CLINVAR Allosteric communication between the pyridoxal 5'-phosphate (PLP) and heme sites in the H2S generator human cystathionine β-synthase. 22977242

2012