Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Classic homocystinuria (HCU) is an inherited disorder characterized by elevated homocysteine (Hcy) in plasma and tissues resulting from cystathionine β-synthase (CBS) deficiency. 31450979

2019

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. 30873612

2019

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Cystathionine-beta-synthase (CBS) is an enzyme that catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine, and in which variations are associated with human hyperhomocysteinemia and homocystinuria. 31301157

2019

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Taurine alleviates repression of betaine-homocysteine <i>S</i>-methyltransferase and significantly improves the efficacy of long-term betaine treatment in a mouse model of cystathionine β-synthase-deficient homocystinuria. 30768359

2019

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Newborn screening by MS/MS on dried blood spot samples (DBS) has one of its items in methionine levels: the knowledge of this parameter allows the identification of infant affected by homocystinuria (cystathionine β-synthase, CBS, deficiency) but can also lead, as side effect, to identify cases of methionine adenosyltransferase (MAT) type I/III deficiency. 31641591

2019

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE Classical homocystinuria (HCU) is the most common inherited disorder of sulfur amino acid metabolism caused by deficiency in cystathionine beta-synthase (CBS) activity and characterized by severe elevation of homocysteine in blood and tissues. 29398487

2018

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE Homocystinuria due to cystathionine beta synthase (CBS) deficiency presents with a wide clinical spectrum. 28779878

2018

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 AlteredExpression BEFREE Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). 29352562

2018

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria. 29526799

2018

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Cystathionine β-synthase-deficient homocystinuria (HCU) is a poorly understood, life-threatening inborn error of sulfur metabolism. 29101223

2018

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. 29326875

2018

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE This study aimed to identify mutations in the cystathionine β-synthase (CBS) gene which are associated with classical homocystinuria in nine Chinese patients. 29508359

2018

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE Mutations in the cystathionine β-synthase (<i>CBS</i>) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. 30030379

2018

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability. 28488385

2017

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE Classical homocystinuria (HCU) due to inactivating mutation of cystathionine β-synthase (CBS) is a poorly understood life-threatening inborn error of sulfur metabolism. 28291718

2017

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 AlteredExpression BEFREE Classical homocystinuria (HCU) is an inborn error of sulfur amino acid metabolism caused by deficient activity of cystathionine β-synthase (CBS), resulting in an accumulation of homocysteine and a concomitant decrease of cystathionine and cysteine in blood and tissues. 28821635

2017

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model. 27183385

2016

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE A discrepancy has been identified between numbers of expected and identified patients with homocystinuria due to cystathionine beta-synthase (CBS) deficiency. 26750749

2016

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Cystathionine-β-synthase (CBS) deficiency is the main cause of homocystinuria. 25805165

2015

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE The cystathionine β-synthase (CBS) gene has been shown to be related to homocystinuria. 26667307

2015

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE 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: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker MGD Alterations of retinal vasculature in cystathionine-β-synthase heterozygous mice: a model of mild to moderate hyperhomocysteinemia. 25016930

2014

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways. 24891521

2014

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 Biomarker BEFREE Cystathionine-β-synthase (CBS) deficiency is a human genetic disease causing homocystinuria, thrombosis, mental retardation, and a suite of other devastating manifestations. 22267502

2012

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
0.300 GeneticVariation BEFREE Inherited homocystinurias, have in common, accumulation of homocysteine with subsequent neurotoxicity; they also encompass two distinctive clinical entities: classical homocystinuria due to cystathionine β-synthase (CBS) deficiency and the rare inborn errors of cobalamin and folate metabolism. 23124942

2012