DisGeNET - a database of gene-disease associations

Gene: CEP290 ×

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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:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.700

Biomarker

GENOMICS_ENGLAND

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

2007