DisGeNET - a database of gene-disease associations

Source: MGD

Disease: LEBER CONGENITAL AMAUROSIS 8 ×

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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

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:	23418
Gene Symbol:	CRB1

CRB1

crumbs cell polarity complex component 1

0.570

0.654

5.6E-16

CUI:	C3151202
Disease:	LEBER CONGENITAL AMAUROSIS 8

LEBER CONGENITAL AMAUROSIS 8

disease

0.910

None

1.000

0

1999

2019