|
| Entrez Id: |
157657 |
| Gene Symbol: |
C8orf37 |
C8orf37
|
Retinitis Pigmentosa
|
0.950 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
157657 |
| Gene Symbol: |
C8orf37 |
C8orf37
|
Retinitis Pigmentosa
|
0.950 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
5145 |
| Gene Symbol: |
PDE6A |
PDE6A
|
Retinitis Pigmentosa
|
0.900 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| 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: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
CausalMutation |
CLINVAR |
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
|
26497376 |
2015 |
|
| 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: |
5158 |
| Gene Symbol: |
PDE6B |
PDE6B
|
Retinitis Pigmentosa
|
0.900 |
CausalMutation |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
|
| 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 |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
|
| 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: |
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: |
5145 |
| Gene Symbol: |
PDE6A |
PDE6A
|
Retinitis Pigmentosa
|
0.900 |
CausalMutation |
CLINVAR |
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
|
17110911 |
2006 |
|
| 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: |
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 |
CausalMutation |
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 |
CausalMutation |
CLINVAR |
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
|
8394174 |
1993 |
|
| 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: |
6121 |
| Gene Symbol: |
RPE65 |
RPE65
|
Retinitis Pigmentosa
|
0.800 |
CausalMutation |
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 |
CausalMutation |
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 |
CausalMutation |
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: |
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: |
6103 |
| Gene Symbol: |
RPGR |
RPGR
|
Retinitis Pigmentosa
|
0.800 |
CausalMutation |
CLINVAR |
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
|
10932196 |
2000 |