Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE Altogether, this shows that Cbs overdosage is involved in DS learning and memory phenotypes. 30649339

2019

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 AlteredExpression BEFREE Here we tested the hypothesis that the suppression of mitochondrial electron transport in DS cells is due to high expression of cystathionine-β-synthase (CBS) and subsequent overproduction of the gaseous transmitter hydrogen sulfide (H<sub>2</sub>S). 31481613

2019

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome. 26475388

2015

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. 24068460

2013

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Individuals with Down syndrome (DS) carry three copies of the Cystathionine β-synthase (CβS) gene. 22903356

2012

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE The cystathionine β-synthase (CBS) gene, located on human chromosome 21q22.3, is a good candidate for playing a role in the Down Syndrome (DS) cognitive profile: it is overexpressed in the brain of individuals with DS, and it encodes a key enzyme of sulfur-containing amino acid (SAA) metabolism, a pathway important for several brain physiological processes. 22253703

2012

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 AlteredExpression BEFREE In Down's syndrome there is evidence that increased gene expression coding for specific cystathionine beta-synthase translates directly into biochemical aberrations, which result in a biochemical and metabolic imbalance of the methyl status. 21195648

2011

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE In a group of 121 case families (mother, father, and proband with DS and AVSD) and 122 control families (mother, father, and proband with DS and no CHD), tag SNPs were genotyped in and around five folate pathway genes: 5,10-methylenetetrahyrdofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), cystathionine beta-synthase (CBS), and the reduced folate carrier (SLC19A1, RFC1). 20718043

2010

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 AlteredExpression BEFREE A model of leukemogenesis in DS is proposed in which mutagenesis is driven by cystathionine-beta-synthase overexpression and altered folate homeostasis that becomes fixed as the ability to repair DNA damage is compromised. 19633202

2009

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE The methionine-synthase-reductase A66G, the methionine-synthase A2756G and the cystathionine-beta-synthase 844ins68 polymorphisms were not associated with increased risk of Down syndrome. 16845273

2006

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Taking into consideration that in the one-carbon metabolism cystathionine beta-synthase (CBS) catalyzes Hcy in an irreversible way, and that CBS gene is located in chromosome 21, fetuses and infants with DS have functional folate deficiency due to overexpression of CBS. 16575899

2006

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE The production of transgenic mice expressing human cystathionine beta-synthase to study Down syndrome. 16541333

2006

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 AlteredExpression BEFREE Paraoxonase-1 was up-regulated in Down syndrome fetal liver, while cystathionine beta synthase gene expression in Down syndrome fetuses was similar to the gene level in control fetuses. 16806076

2006

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE The high event-free survival (EFS) rates of DS AML patients and in particular, patients with megakaryocytic leukemia (AMkL), at least in part reflects an increased sensitivity to cytosine arabinoside (ara-C) secondary to increased expression of the chromosome 21-localized gene, cystathionine-beta-synthase, and potentially global mechanisms which increase the susceptibility of cells to undergo apoptosis. 15390307

2005

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE In clinically relevant AML cell line models, high cystathionine-beta-synthase transcripts in DS CMK cells were accompanied by 10-fold greater ara-C sensitivity and 2.4-fold higher levels of ara-CTP compared with non-DS CMS cells. 14744791

2004

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 AlteredExpression BEFREE In this study we investigated expression of three proteins (cystathionine beta-synthase (CBS), pyridoxal kinase (PDXK), ES1 protein homolog, mitochondrial precursor (ES1)) whose genes are encoded on chromosome 21 in fetal DS (n = 8; mean gestational age of 19.8 +/- 2.0 weeks) and controls (n = 7; mean gestational age of 18.8 +/- 2.2 weeks) brains (cortex) using proteomic technologies. 15082224

2004

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines. 12393509

2003

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE The gene for cystathionine beta-synthase (CBS) is located on chromosome 21 and is overexpressed in children with Down syndrome (DS), or trisomy 21. 11391481

2001

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE Cystathionine-beta-synthase cDNA transfection alters the sensitivity and metabolism of 1-beta-D-arabinofuranosylcytosine in CCRF-CEM leukemia cells in vitro and in vivo: a model of leukemia in Down syndrome. 11103808

2000

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE These in vitro studies support our hypothesis that enhanced metabolism of ara-C in DS cells may be a contributing factor to the superior survival rate of DS children with AML and is possibly based on a gene dosage effect of genes localized to chromosome 21 including cystathionine-beta-synthase. 8605357

1996

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE In order to clarify whether cystathionine beta-synthase (CBS) could differentiate groups of patients with various vascular diagnosis, CBS was studied in cultured human skin fibroblasts from 99 human subjects diagnosed as homozygotes or heterozygotes for CBS deficiency or suffering from atherosclerotic vascular disease or Down's syndrome (prone to less atherosclerosis). 1385957

1992

Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 Biomarker BEFREE Arteriosclerosis seems to be increased in heterozygotes as well (cystathionine beta-synthase gene dosage 50%) but rare in Down syndrome (cystathionine beta-synthase gene dosage 150%). 2533642

1989