DisGeNET - a database of gene-disease associations

CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28

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:

rs104894672

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.820

GeneticVariation

BEFREE

This iPSC line will be an important tool for retinal differentiation studies to better understand the CRD phenotype caused by the mutant p.Arg41Trp CRX protein.

31203166

2019

dbSNP:

rs104894672

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.820

GeneticVariation

BEFREE

A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients.

12819982

2003

dbSNP:

rs104894672

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.820

GeneticVariation

UNIPROT

The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

10887186

2000

dbSNP:

rs104894672

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.820

GeneticVariation

UNIPROT

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

9792858

1998

dbSNP:

rs104894672

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.820

GeneticVariation

UNIPROT

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

9390563

1997

dbSNP:

rs104894672

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.820

GeneticVariation

UNIPROT

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

9427255

1997

dbSNP:

rs104894672

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.820

CausalMutation

CLINVAR

dbSNP:

rs104894671

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.810

GeneticVariation

UNIPROT

The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

10887186

2000

dbSNP:

rs104894671

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.810

GeneticVariation

BEFREE

Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells.

10967037

2000

dbSNP:

rs104894671

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.810

GeneticVariation

UNIPROT

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

9792858

1998

dbSNP:

rs104894671

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.810

GeneticVariation

UNIPROT

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

9390563

1997

dbSNP:

rs104894671

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.810

GeneticVariation

UNIPROT

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

9427255

1997

dbSNP:

rs104894671

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.810

CausalMutation

CLINVAR

dbSNP:

rs104894673

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3151192
Disease:

LEBER CONGENITAL AMAUROSIS 7

0.800

GeneticVariation

UNIPROT

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

21602930

2011

dbSNP:

rs104894673

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3151192
Disease:

LEBER CONGENITAL AMAUROSIS 7

0.800

GeneticVariation

UNIPROT

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

20513135

2010

dbSNP:

rs104894673

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3151192
Disease:

LEBER CONGENITAL AMAUROSIS 7

0.800

GeneticVariation

UNIPROT

The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

10887186

2000

dbSNP:

rs104894673

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3151192
Disease:

LEBER CONGENITAL AMAUROSIS 7

0.800

GeneticVariation

UNIPROT

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.

9931337

1999

dbSNP:

rs104894673

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3151192
Disease:

LEBER CONGENITAL AMAUROSIS 7

0.800

GeneticVariation

UNIPROT

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

9792858

1998

dbSNP:

rs104894673

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3151192
Disease:

LEBER CONGENITAL AMAUROSIS 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs61748459

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.720

GeneticVariation

BEFREE

As an example, we discover an unannotated Tf_Otx Pfam domain on the cone rod homeobox protein, which suggests a possible mechanism for how the V242M mutation on this protein causes cone-rod dystrophy.

12668763

2003

dbSNP:

rs61748459

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.720

GeneticVariation

BEFREE

The missense change Val242Met was found in an isolate case of CORD and no controls; however, its pathogenicity remains uncertain because only limited segregation analysis was possible.

11748859

2001

dbSNP:

rs61748459

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.720

GeneticVariation

UNIPROT

The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

10887186

2000

dbSNP:

rs61748459

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.720

GeneticVariation

UNIPROT

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

9792858

1998

dbSNP:

rs61748459

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.720

GeneticVariation

UNIPROT

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

9390563

1997

dbSNP:

rs61748459

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C3489532
Disease:

Cone-Rod Dystrophy 2

0.720

GeneticVariation

UNIPROT

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

9427255

1997