×
Entrez Id:
254359
Gene Symbol:
ZDHHC24
ZDHHC24
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
23469
Gene Symbol:
PHF3
PHF3
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
152519
Gene Symbol:
NIPAL1
NIPAL1
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
CDH23-AS1
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
23469
Gene Symbol:
PHF3
PHF3
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
23469
Gene Symbol:
PHF3
PHF3
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
29550188
2018
×
Entrez Id:
152519
Gene Symbol:
NIPAL1
NIPAL1
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
28981474
2017
×
Entrez Id:
55213
Gene Symbol:
RCBTB1
RCBTB1
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
27486781
2016
×
Entrez Id:
152519
Gene Symbol:
NIPAL1
NIPAL1
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
26306921
2015
×
Entrez Id:
152519
Gene Symbol:
NIPAL1
NIPAL1
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
25611614
2015
×
Entrez Id:
152519
Gene Symbol:
NIPAL1
NIPAL1
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
24265693
2013
×
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:
5264
Gene Symbol:
PHYH
PHYH
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
14974078
2004
CLRN1-AS1
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
12080385
2002
CLRN1-AS1
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
12080385
2002
×
Entrez Id:
254359
Gene Symbol:
ZDHHC24
ZDHHC24
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
12118255
2002
×
Entrez Id:
5264
Gene Symbol:
PHYH
PHYH
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Identification of PAHX, a Refsum disease gene.
9326939
1997
×
Entrez Id:
152519
Gene Symbol:
NIPAL1
NIPAL1
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
7479749
1995
×
Entrez Id:
6573
Gene Symbol:
SLC19A1
SLC19A1
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
×
Entrez Id:
81853
Gene Symbol:
TMEM14B
TMEM14B
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
×
Entrez Id:
338917
Gene Symbol:
VSX2
VSX2
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
×
Entrez Id:
81853
Gene Symbol:
TMEM14B
TMEM14B
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR