|
| Entrez Id: |
157657 |
| Gene Symbol: |
C8orf37 |
C8orf37
|
Retinitis Pigmentosa
|
0.950 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
|
| Entrez Id: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |
|
| Entrez Id: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
|
25823529 |
2015 |
|
| Entrez Id: |
5145 |
| Gene Symbol: |
PDE6A |
PDE6A
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
|
25775262 |
2015 |
|
| Entrez Id: |
5145 |
| Gene Symbol: |
PDE6A |
PDE6A
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
|
10393062 |
1999 |
|
| Entrez Id: |
5145 |
| Gene Symbol: |
PDE6A |
PDE6A
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
|
21151602 |
2010 |
|
| Entrez Id: |
5145 |
| Gene Symbol: |
PDE6A |
PDE6A
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.
|
23134348 |
2013 |
|
| Entrez Id: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
|
7724547 |
1995 |
|
| Entrez Id: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
|
20591486 |
2010 |
|
| Entrez Id: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
6121 |
| Gene Symbol: |
RPE65 |
RPE65
|
Retinitis Pigmentosa
|
0.800 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
6103 |
| Gene Symbol: |
RPGR |
RPGR
|
Retinitis Pigmentosa
|
0.800 |
GeneticVariation |
CLINVAR |
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
|
10932196 |
2000 |
|
| Entrez Id: |
6103 |
| Gene Symbol: |
RPGR |
RPGR
|
Retinitis Pigmentosa
|
0.800 |
GeneticVariation |
CLINVAR |
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
|
11992260 |
2002 |
|
| Entrez Id: |
1406 |
| Gene Symbol: |
CRX |
CRX
|
Retinitis Pigmentosa
|
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
9227 |
| Gene Symbol: |
LRAT |
LRAT
|
Retinitis Pigmentosa
|
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
|
| Entrez Id: |
346007 |
| Gene Symbol: |
EYS |
EYS
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
|
25268133 |
2014 |
|
| Entrez Id: |
7399 |
| Gene Symbol: |
USH2A |
USH2A
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
|
20507924 |
2010 |
|
| Entrez Id: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
|
20554613 |
2010 |
|
| Entrez Id: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
|
| Entrez Id: |
6010 |
| Gene Symbol: |
RHO |
RHO
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
|
8401533 |
1993 |
|
| Entrez Id: |
346007 |
| Gene Symbol: |
EYS |
EYS
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
6010 |
| Gene Symbol: |
RHO |
RHO
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
|
1833777 |
1991 |
|
| Entrez Id: |
7399 |
| Gene Symbol: |
USH2A |
USH2A
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
|
18273898 |
2008 |