DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Amaurosis congenita of Leber, type 1 ×

Gene: GUCY2D ×

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:	3000
Gene Symbol:	GUCY2D

GUCY2D

guanylate cyclase 2D, retinal

0.570

0.769

6.5E-10

CUI:	C2931258
Disease:	Amaurosis congenita of Leber, type 1

Amaurosis congenita of Leber, type 1

disease

1.000

None

0.984

0

1995

2020