DisGeNET - a database of gene-disease associations

Cystathionine beta-Synthase Deficiency Disease, C0751202

Variant: rs781567152 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

25044645

2014

dbSNP:

rs781567152

CBS

0.800

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:

rs781567152

CBS

0.800

GeneticVariation

CLINVAR

Surrogate genetics and metabolic profiling for characterization of human disease alleles.

22267502

2012

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.

22738154

2012

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.

21240075

2011

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

CLINVAR

Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.

20066033

2010

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

16429402

2006

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

16205833

2005

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

15146473

2004

dbSNP:

rs781567152

CBS

0.800

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:

rs781567152

CBS

0.800

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:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

14635102

2003

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

CLINVAR

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

14635102

2003

dbSNP:

rs781567152

CBS

0.800

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:

rs781567152

CBS

0.800

GeneticVariation

CLINVAR

Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.

11343305

2001

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.

11553052

2001

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.

11013450

2000

dbSNP:

rs781567152

CBS

0.800

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:

rs781567152

CBS

0.800

GeneticVariation

CLINVAR

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.

9361025

1997

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.

10462600

1997

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.

7635485

1995

dbSNP:

rs781567152

CBS

0.800

GeneticVariation

UNIPROT

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.

8528202

1995

dbSNP:

rs781567152

CBS

0.800

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:

rs781567152

CBS

0.800

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