DisGeNET - a database of gene-disease associations

NR2E3, nuclear receptor subfamily 2 group E member 3, 10002

N. diseases: 90; N. variants: 31

Disease: Retinitis Pigmentosa ×

Variant: rs2723341 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2723341

rs2723341

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C0035334
Disease:

Retinitis Pigmentosa

C

0.700

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

2019