DisGeNET - a database of gene-disease associations

Source: MGD

Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder) ×

Gene: CEP290 ×

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:	80184
Gene Symbol:	CEP290

CEP290

centrosomal protein 290

0.517

0.769

1.1E-60

CUI:	C1857821
Disease:	LEBER CONGENITAL AMAUROSIS 10 (disorder)

LEBER CONGENITAL AMAUROSIS 10 (disorder)

disease

0.800

None

1.000

0

2006

2018