DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: AICARDI-GOUTIERES SYNDROME 1 ×

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:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1

0.300

Biomarker

CTD_human

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

2012