DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Amyotrophic Lateral Sclerosis ×

Gene: OPTN ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	10133
Gene Symbol:	OPTN

OPTN

optineurin

0.548

0.808

5.9E-18

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

disease

0.700

None

0.954

0

2010

2020