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 37 (disorder) ×

Variant: rs28937873 ×

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:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.

24069298

2013

dbSNP:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

19898638

2009

dbSNP:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

19006237

2009

dbSNP:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

18294254

2008

dbSNP:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

17438525

2007

dbSNP:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.

15689355

2005

dbSNP:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.

11773633

2002

dbSNP:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

10655056

2000

dbSNP:

rs28937873

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C1970163
Disease:

RETINITIS PIGMENTOSA 37 (disorder)

0.700

CausalMutation

CLINVAR

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

11071390

2000