Gene: CBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis. 11013450

2000
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. 21240075

2011
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation BEFREE Missense mutations in the cystathionine beta-synthase (CBS) gene, such as I278T, are responsible for CBS deficiency, the most common inherited disorder in sulfur metabolism. 17540596

2007
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. 7635485

1995
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation BEFREE Because a reduction of the severely elevated levels of tHcy in CBS deficiency reduces cardiovascular risk and because homozygosity for the 833T-->C mutation is more prevalent than previously thought, our results emphasize the importance of measuring tHcy routinely in thrombophilia screening. 10807759

2000
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. 7849717

1994
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. 12007221

2002
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT 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
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. 15365998

2004
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. 7981678

1994
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. 8528202

1995
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation BEFREE Here, a mouse model for CBS deficiency (<i>Tg-I278T Cbs<sup>-/-</sup></i>) was used to evaluate the potential of minicircle-based naked DNA gene therapy to treat CBS deficiency. 31084364

2019
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation BEFREE Because of both the high prevalence of the 833T-->C mutation among homozygotes for CBS deficiency and its absence in 60 cardiovascular patients, we may conclude that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease. 8554066

1996
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation BEFREE To better understand the effectiveness of nutritional treatment strategies, we have performed a series of long-term dietary manipulation studies using our previously developed Tg-I278T Cbs(-/-) mouse model of CBS deficiency and sibling Tg-I278T Cbs(+/-) controls. 26599618

2016
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. 22738154

2012
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 23974653

2014
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. 12815602

2003
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations. 11553052

2001
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T). 15146473

2004