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:

rs763036586

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:

rs763835246

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:

rs769080151

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:

rs770095972

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:

rs775992753

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:

rs778220779

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:

rs781444670

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

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

7611293

1995

dbSNP:

rs786204608

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:

rs786204609

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:

rs786204757

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:

rs121964971

CBS

0.710

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:

rs28934892

CBS

0.710

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:

rs777919630

CBS

0.710

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:

rs1170128038

CBS

0.700

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:

rs121964965

CBS

0.700

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:

rs121964967

CBS

0.700

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:

rs121964968

CBS

0.700

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:

rs121964970

CBS

0.700

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:

rs141502207

CBS

0.700

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:

rs1429138569

CBS

0.700

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:

rs1464223176

CBS

0.700

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:

rs1555872506

CBS

0.700

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:

rs1555874803

CBS

0.700

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:

rs1555875010

CBS

0.700

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