rs104894672
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894672
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894672
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894672
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894672
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894672
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894672
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
Cone-Rod Dystrophy 2
T
0.820
CausalMutation
CLINVAR
rs104894671
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894671
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894671
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894671
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894671
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894671
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
Cone-Rod Dystrophy 2
C
0.810
CausalMutation
CLINVAR
rs104894673
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894673
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894673
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894673
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894673
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs104894673
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
LEBER CONGENITAL AMAUROSIS 7
T
0.800
CausalMutation
CLINVAR
rs61748459
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs61748459
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs61748459
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs61748459
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs61748459
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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
rs61748459
×
Entrez Id:
1406
Gene Symbol:
CRX
CRX
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