DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Retinitis Pigmentosa ×

Gene: NEK2 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4751
Gene Symbol:	NEK2

NEK2

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.310

GermlineCausalMutation

ORPHANET

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

2013