DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Cone-Rod Dystrophy 2 ×

Gene: RPGRIP1 ×

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:	57096
Gene Symbol:	RPGRIP1

RPGRIP1

RPGR interacting protein 1

0.553

0.654

1.3E-23

CUI:	C3489532
Disease:	Cone-Rod Dystrophy 2

Cone-Rod Dystrophy 2

disease

0.350

None

1.000

0

2003

2018