DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cystathionine beta-Synthase Deficiency Disease ×

Variant: rs794727835 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs794727835

CBS

CUI:	C0751202
Disease:	Cystathionine beta-Synthase Deficiency Disease

Cystathionine beta-Synthase Deficiency Disease

0.700

GeneticVariation

CLINVAR

Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.

24138954

2014

dbSNP:

rs794727835

CBS

CUI:	C0751202
Disease:	Cystathionine beta-Synthase Deficiency Disease

Cystathionine beta-Synthase Deficiency Disease

0.700

GeneticVariation

CLINVAR

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

12124992

2002

dbSNP:

rs794727835

CBS

CUI:	C0751202
Disease:	Cystathionine beta-Synthase Deficiency Disease

Cystathionine beta-Synthase Deficiency Disease

0.700

GeneticVariation

CLINVAR

Cystathionine beta-synthase mutations in homocystinuria.

10338090

1999