DisGeNET - a database of gene-disease associations

Cystathionine beta-Synthase Deficiency Disease, C0751202

Gene: CBS ×

Source: UNIPROT ×

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:

rs1170128038

CBS

0.700

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:

rs1170128038

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs121964965

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs121964965

CBS

0.700

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:

rs121964967

CBS

0.700

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:

rs121964967

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs121964968

CBS

0.700

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:

rs121964968

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs121964970

CBS

0.700

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:

rs121964970

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs141502207

CBS

0.700

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:

rs141502207

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs1429138569

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs1429138569

CBS

0.700

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:

rs1464223176

CBS

0.700

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:

rs1464223176

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs1555872506

CBS

0.700

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:

rs1555872506

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs1555874803

CBS

0.700

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:

rs1555874803

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs1555875010

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs1555875010

CBS

0.700

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:

rs1555875351

CBS

0.700

GeneticVariation

UNIPROT

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

25044645

2014

dbSNP:

rs1555875351

CBS

0.700

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:

rs370167302

CBS

0.700

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