DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Retinal Diseases ×

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:	57505
Gene Symbol:	AARS2

AARS2

CUI:	C0035309
Disease:	Retinal Diseases

Retinal Diseases

0.010

GeneticVariation

BEFREE

Missense variants in the AARS2 gene are the likely cause of the retinopathy and optic atrophy in this patient.

2018