Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 102723377
Gene Symbol: CDH23-AS1
CDH23-AS1
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1
CUI: C0035334
Disease: Retinitis Pigmentosa
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
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 GeneticVariation CLINVAR Identification of PAHX, a Refsum disease gene. 9326939

1997
Entrez Id: 152519
Gene Symbol: NIPAL1
NIPAL1
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 GeneticVariation CLINVAR

Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 CausalMutation CLINVAR

Entrez Id: 81853
Gene Symbol: TMEM14B
TMEM14B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 CausalMutation CLINVAR

Entrez Id: 338917
Gene Symbol: VSX2
VSX2
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 CausalMutation CLINVAR

Entrez Id: 81853
Gene Symbol: TMEM14B
TMEM14B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 GeneticVariation CLINVAR