DisGeNET - a database of gene-disease associations

Source: RGD

Disease: Visual seizure ×

Gene: CSTB ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1476
Gene Symbol:	CSTB

CSTB

CUI:	C0270824
Disease:	Visual seizure

Visual seizure

0.200

Biomarker

RGD

Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons.

2000