DisGeNET - a database of gene-disease associations

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:	103
Gene Symbol:	ADAR

ADAR

CUI:	C0795996
Disease:	STRIATONIGRAL DEGENERATION, INFANTILE (disorder)

STRIATONIGRAL DEGENERATION, INFANTILE (disorder)

0.300

GermlineCausalMutation

ORPHANET

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

2014