|
| Entrez Id: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
CausalMutation |
CLINVAR |
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
|
11527935 |
2001 |
|
| 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: |
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: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics of childhood-onset Stargardt disease.
|
25312043 |
2015 |
|
| Entrez Id: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
CausalMutation |
CLINVAR |
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
|
26497376 |
2015 |
|
| Entrez Id: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
24 |
| Gene Symbol: |
ABCA4 |
ABCA4
|
Retinitis Pigmentosa
|
0.700 |
GeneticVariation |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
| Entrez Id: |
54806 |
| Gene Symbol: |
AHI1 |
AHI1
|
Retinitis Pigmentosa
|
0.410 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
54806 |
| Gene Symbol: |
AHI1 |
AHI1
|
Retinitis Pigmentosa
|
0.410 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
23568 |
| Gene Symbol: |
ARL2BP |
ARL2BP
|
Retinitis Pigmentosa
|
0.430 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
84100 |
| Gene Symbol: |
ARL6 |
ARL6
|
Retinitis Pigmentosa
|
0.610 |
GeneticVariation |
CLINVAR |
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
|
23219996 |
2013 |
|
| Entrez Id: |
582 |
| Gene Symbol: |
BBS1 |
BBS1
|
Retinitis Pigmentosa
|
0.430 |
GeneticVariation |
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
|
| Entrez Id: |
582 |
| Gene Symbol: |
BBS1 |
BBS1
|
Retinitis Pigmentosa
|
0.430 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
582 |
| Gene Symbol: |
BBS1 |
BBS1
|
Retinitis Pigmentosa
|
0.430 |
GeneticVariation |
CLINVAR |
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
|
15770229 |
2005 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation |
CLINVAR |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
16582908 |
2006 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
Retinitis Pigmentosa
|
0.100 |
CausalMutation |
CLINVAR |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
16582908 |
2006 |
|
| Entrez Id: |
166379 |
| Gene Symbol: |
BBS12 |
BBS12
|
Retinitis Pigmentosa
|
0.110 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
583 |
| Gene Symbol: |
BBS2 |
BBS2
|
Retinitis Pigmentosa
|
0.420 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
585 |
| Gene Symbol: |
BBS4 |
BBS4
|
Retinitis Pigmentosa
|
0.120 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
129880 |
| Gene Symbol: |
BBS5 |
BBS5
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
27241 |
| Gene Symbol: |
BBS9 |
BBS9
|
Retinitis Pigmentosa
|
0.110 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
7439 |
| Gene Symbol: |
BEST1 |
BEST1
|
Retinitis Pigmentosa
|
0.430 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
7439 |
| Gene Symbol: |
BEST1 |
BEST1
|
Retinitis Pigmentosa
|
0.430 |
GeneticVariation |
CLINVAR |
|
|
|