Retinitis pigmentosa

disease

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Also known as pericentral pigmentary retinopathyRod-cone dystrophy

Summary

Retinitis pigmentosa (MONDO:0019200) is a disease (an umbrella term covering 102 Mondo subtypes) caused by variants in BEST1, EYS, RAX2, and 7 other genes, with 111 cohort genes (31 GWAS associations across 7 studies) and 234 clinical trials. The dominant Reactome pathway is Activation of the phototransduction cascade (9 cohort genes). Top therapeutic interventions include retinol, cenegermin, and valproic acid.

At a glance

Prevalence: 1-5 / 10 000 (Worldwide) [Orphanet-validated]
Causal genes: BEST1 (GenCC Definitive), EYS (GenCC Definitive), RAX2 (GenCC Definitive), REEP6 (GenCC Definitive) (+6 more)
Umbrella term: 102 Mondo subtypes
Cohort genes: 111
GWAS associations: 31
ClinVar variants: 5,602
Phenotypes (HPO): 31
Clinical trials: 234

Clinical features

Epidemiology

Prevalence records

9 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000	26.7	Worldwide	Validated
Point prevalence	1-5 / 10 000	30	Europe	Validated
Point prevalence	1-5 / 10 000	25.4	Denmark	Validated
Point prevalence	1-5 / 10 000	22.5	Norway	Validated
Point prevalence	1-5 / 10 000	21	United States	Validated
Point prevalence	1-5 / 10 000	20.5	United Kingdom	Validated
Point prevalence	1-5 / 10 000	26.4	China	Validated
Point prevalence	1-5 / 10 000	16.7	Slovenia	Validated
Point prevalence	1-5 / 10 000	11.09	Korea, Republic of	Validated

Signs & symptoms

Clinical features (HPO)

31 HPO clinical features (Orphanet curated; top 31 by frequency):

HPO ID	Term	Frequency
HP:0000405	Conductive hearing impairment	Very frequent (80-99%)
HP:0000407	Sensorineural hearing impairment	Very frequent (80-99%)
HP:0000505	Visual impairment	Very frequent (80-99%)
HP:0000512	Abnormal electroretinogram	Very frequent (80-99%)
HP:0000546	Retinal degeneration	Very frequent (80-99%)
HP:0000613	Photophobia	Very frequent (80-99%)
HP:0000618	Blindness	Very frequent (80-99%)
HP:0000639	Nystagmus	Very frequent (80-99%)
HP:0000648	Optic atrophy	Very frequent (80-99%)
HP:0007675	Progressive night blindness	Very frequent (80-99%)
HP:0007703	Abnormality of retinal pigmentation	Very frequent (80-99%)
HP:0007737	Bone spicule pigmentation of the retina	Very frequent (80-99%)
HP:0008046	Abnormal retinal vascular morphology	Very frequent (80-99%)
HP:0000501	Glaucoma	Frequent (30-79%)
HP:0000543	Optic disc pallor	Frequent (30-79%)
HP:0000563	Keratoconus	Frequent (30-79%)
HP:0000602	Ophthalmoplegia	Frequent (30-79%)
HP:0000662	Nyctalopia	Frequent (30-79%)
HP:0000842	Hyperinsulinemia	Frequent (30-79%)
HP:0001105	Retinal atrophy	Frequent (30-79%)
HP:0007787	Posterior subcapsular cataract	Frequent (30-79%)
HP:0007843	Attenuation of retinal blood vessels	Frequent (30-79%)
HP:0007994	Peripheral visual field loss	Frequent (30-79%)
HP:0011505	Cystoid macular edema	Frequent (30-79%)
HP:0012426	Optic disc drusen	Frequent (30-79%)
HP:0030466	Abnormal full-field electroretinogram	Frequent (30-79%)
HP:0030488	Abnormal central response of multifocal electroretinogram	Frequent (30-79%)
HP:0030610	Photoreceptor outer segment loss on macular OCT	Frequent (30-79%)
HP:0000551	Color vision defect	Occasional (5-29%)
HP:0007663	Reduced visual acuity	Occasional (5-29%)
HP:0030786	Photopsia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa
Mondo ID	MONDO:0019200
MeSH	D012174
OMIM	268000
Orphanet	791
DOID	DOID:10584
NCIT	C85045
SNOMED CT	28835009
UMLS	C0035334
MedGen	20551
GARD	0005694
MedDRA	10038914
NORD	1661
Is cancer (heuristic)	no

Also known as: pericentral pigmentary retinopathy · retinitis pigmentosa · Rod-cone dystrophy

Data availability: 5,602 ClinVar variants · 31 GWAS associations (7 studies) · 124 GenCC gene-disease records · 225 cell lines.

Disease family

An umbrella term covering 102 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa

Genetics & variants

GWAS landscape

31 GWAS associations across 7 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr6:65700352	1e-13		?	3.95
rs1006786441	3e-10	LINC01934 - ITGA4	T	6.87
rs1021821604	7e-10	DNAJC10 - Y_RNA	C	6.23
chr6:65728469	9e-10		?	4
rs766981289	9e-09	EYS	T	6.66
rs960850955	2e-08	SEMA3E	T	31.28
rs555679270	2e-08	TMEM271	A	40.18
chr6:64595973	2e-07		?	0.48
chr2:18829755	3e-07		?	0.13
chr4:161056342	8e-07		?	0.59
chr8:94292398	1e-06		?	5.18
chr12:43047088	2e-06		?	0.66
chr2:43154108	2e-06		?	0.63
chr2:73524111	4e-06		?	1.72
chr8:56130779	5e-06		?	4
chr3:131630949	6e-06		?	0.48
chr1:56911134	6e-06		?	1.97
chr5:149610967	7e-06		?	0.56
chr1:185413074	7e-06		?	0.68
chr7:791207	8e-06		?	1.62
chr7:24293561	8e-06		?	1.91
chr12:113469471	8e-06		?	0.71
chr5:172750120	8e-06		?	1.6
chr10:96104665	9e-06		?	0.63
chr19:55900869	9e-06		?	0.55
chr8:14999045	9e-06		?	2.12
chr7:84055587	1e-05		?	0.49
chr12:26860830	1e-05		?	0.65

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90011894	Nishiguchi KM	2021	640	0	A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
GCST90011892	Nishiguchi KM	2021	432	0	A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
GCST90011893	Nishiguchi KM	2021	208	0	A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
GCST90018692	Sakaue S	2021	155	168,903	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90018912	Sakaue S	2021	121	126,333	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90013904	Mbatchou J	2021	0	0	Computationally efficient whole-genome regression for quantitative and binary traits.
GCST90013954	Mbatchou J	2021	0	0	Computationally efficient whole-genome regression for quantitative and binary traits.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	27

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	27

Functional consequences

Consequence	Count
unknown	23
intergenic_variant	2
intron_variant	2
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr6:65700352							1e-13	Tier 4: intronic/intergenic
rs1006786441	2	181421884	C>T		intergenic_variant	LINC01934 - ITGA4	3e-10	Tier 4: intronic/intergenic
rs1021821604	2	182799108	T>C		intergenic_variant	DNAJC10 - Y_RNA	7e-10	Tier 4: intronic/intergenic
chr6:65728469							9e-10	Tier 4: intronic/intergenic
rs766981289	6	64024044	C>T	0.007	intron_variant	EYS	9e-09	Tier 4: intronic/intergenic
rs960850955	7	83457047	TTTC>T		intron_variant	SEMA3E	2e-08	Tier 4: intronic/intergenic
rs555679270	4	574742	G>A		3_prime_UTR_variant	TMEM271	2e-08	Tier 2: splice/UTR
chr6:64595973							2e-07	Tier 4: intronic/intergenic
chr2:18829755							3e-07	Tier 4: intronic/intergenic
chr4:161056342							8e-07	Tier 4: intronic/intergenic
chr8:94292398							1e-06	Tier 4: intronic/intergenic
chr12:43047088							2e-06	Tier 4: intronic/intergenic
chr2:43154108							2e-06	Tier 4: intronic/intergenic
chr2:73524111							4e-06	Tier 4: intronic/intergenic
chr8:56130779							5e-06	Tier 4: intronic/intergenic
chr3:131630949							6e-06	Tier 4: intronic/intergenic
chr1:56911134							6e-06	Tier 4: intronic/intergenic
chr5:149610967							7e-06	Tier 4: intronic/intergenic
chr1:185413074							7e-06	Tier 4: intronic/intergenic
chr7:791207							8e-06	Tier 4: intronic/intergenic
chr7:24293561							8e-06	Tier 4: intronic/intergenic
chr12:113469471							8e-06	Tier 4: intronic/intergenic
chr5:172750120							8e-06	Tier 4: intronic/intergenic
chr10:96104665							9e-06	Tier 4: intronic/intergenic
chr19:55900869							9e-06	Tier 4: intronic/intergenic
chr8:14999045							9e-06	Tier 4: intronic/intergenic
chr7:84055587							1e-05	Tier 4: intronic/intergenic
chr12:26860830							1e-05	Tier 4: intronic/intergenic

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

133 conflicting classifications of pathogenicity, 98 uncertain significance, 93 pathogenic/likely pathogenic, 88 pathogenic, 79 likely pathogenic, 55 benign/likely benign, 50 benign, 4 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1066342	NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val)	ABCA4	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1342853	NM_000350.3(ABCA4):c.4128+1G>A	ABCA4	Pathogenic	criteria provided, multiple submitters, no conflicts
1457719	NM_000350.3(ABCA4):c.95CTTTAT[1] (p.Ser34_Leu35del)	ABCA4	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
191353	NM_000350.3(ABCA4):c.2927del (p.Leu976fs)	ABCA4	Pathogenic	criteria provided, single submitter
193580	NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)	ABCA4	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
156382	NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	AHI1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1451640	NM_014336.5(AIPL1):c.276+1G>A	AIPL1	Pathogenic	reviewed by expert panel
1069267	NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)	ALMS1	Pathogenic	criteria provided, multiple submitters, no conflicts
1297102	NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs)	ALMS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1297106	NM_001378454.1(ALMS1):c.10771del (p.Thr3591fs)	ALMS1	Pathogenic	criteria provided, multiple submitters, no conflicts
12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12144	NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10	Pathogenic	criteria provided, multiple submitters, no conflicts
1209985	NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)	BBS4	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
143127	NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	BEST1	Pathogenic	criteria provided, multiple submitters, no conflicts
18416	NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	CDHR1	Pathogenic	criteria provided, multiple submitters, no conflicts
194793	NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	CDHR1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1213968	NM_025114.4(CEP290):c.381del (p.Asp128fs)	CEP290	Pathogenic	criteria provided, single submitter
1333	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1337	NM_025114.4(CEP290):c.2991+1655A>G	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1068911	NM_201548.5(CERKL):c.758del (p.Met253fs)	CERKL	Pathogenic	criteria provided, multiple submitters, no conflicts
1069741	NM_201548.5(CERKL):c.526C>T (p.Gln176Ter)	CERKL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072011	NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs)	CERKL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1308275	NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)	CERKL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1494511	NM_201548.5(CERKL):c.182T>A (p.Val61Glu)	CERKL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1723321	NM_201548.5(CERKL):c.568del (p.Val190fs)	CERKL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070350	NM_177965.4(CFAP418):c.177del (p.Glu60fs)	CFAP418	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1338868	NM_000390.4(CHM):c.703dup (p.Leu235fs)	CHM	Pathogenic	criteria provided, single submitter
1213977	NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)	CLN3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1275768	NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs)	CLRN1	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 722 · Orphanet: 178 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
EYS	EYS	GWAS, GenCC, Orphanet
ALMS1	ALMS1	GWAS, Orphanet

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ARL2BP	Definitive	Autosomal recessive	retinitis pigmentosa with or without situs inversus	4
BBS2	Definitive	Autosomal recessive	retinitis pigmentosa 74	10
BEST1	Definitive	Autosomal recessive	retinitis pigmentosa	22
CERKL	Definitive	Autosomal recessive	retinitis pigmentosa 26	3
CNGA1	Definitive	Autosomal recessive	retinitis pigmentosa 49	4
CNGB1	Definitive	Autosomal recessive	retinitis pigmentosa 45	3
CRB1	Definitive	Autosomal recessive	retinitis pigmentosa 12	11
DHDDS	Definitive	Autosomal recessive	retinitis pigmentosa 59	8
EYS	Definitive	Autosomal recessive	retinitis pigmentosa 25	6
FAM161A	Definitive	Autosomal recessive	retinitis pigmentosa 28	4
IMPDH1	Definitive	Autosomal dominant	retinitis pigmentosa 10	8
IMPG2	Definitive	Autosomal recessive	retinitis pigmentosa 56	8
MAK	Definitive	Autosomal recessive	retinitis pigmentosa 62	5
MAPRE2	Definitive	Autosomal dominant	retinitis pigmentosa 1	18
MERTK	Definitive	Autosomal recessive	retinitis pigmentosa 38	4
NR2E3	Definitive	Autosomal dominant	retinitis pigmentosa 37	10
NRL	Definitive	Autosomal dominant	retinitis pigmentosa 27	10
PCARE	Definitive	Autosomal recessive	retinitis pigmentosa 54	2
PDE6A	Definitive	Autosomal recessive	retinitis pigmentosa 43	4
PDE6B	Definitive	Autosomal recessive	retinitis pigmentosa 40	10
PDE6G	Definitive	Autosomal recessive	retinitis pigmentosa 57	5
PRCD	Definitive	Autosomal recessive	retinitis pigmentosa 36	5
PROM1	Definitive	Autosomal recessive	retinitis pigmentosa 41	10
PRPF3	Definitive	Autosomal dominant	retinitis pigmentosa 18	5
PRPF31	Definitive	Autosomal dominant	retinitis pigmentosa 11	5
PRPF4	Definitive	Autosomal dominant	retinitis pigmentosa 70	4
PRPF8	Definitive	Autosomal dominant	retinitis pigmentosa 13	8
PRPH2	Definitive	Semidominant	retinitis pigmentosa 7	21
RAX2	Definitive	Autosomal recessive	retinitis pigmentosa	9
REEP6	Definitive	Autosomal recessive	retinitis pigmentosa	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
EYS	Orphanet:791	Retinitis pigmentosa
RHO	Orphanet:215	Congenital stationary night blindness
RHO	Orphanet:52427	Retinitis punctata albescens
RHO	Orphanet:791	Retinitis pigmentosa
RLBP1	Orphanet:227796	Fundus albipunctatus
RLBP1	Orphanet:52427	Retinitis punctata albescens
RLBP1	Orphanet:791	Retinitis pigmentosa
RLBP1	Orphanet:85128	Bothnia retinal dystrophy
ROM1	Orphanet:791	Retinitis pigmentosa
RP1	Orphanet:791	Retinitis pigmentosa
RP2	Orphanet:791	Retinitis pigmentosa
RP9	Orphanet:791	Retinitis pigmentosa
RPE65	Orphanet:364055	Severe early-childhood-onset retinal dystrophy
RPE65	Orphanet:65	Leber congenital amaurosis
RPE65	Orphanet:791	Retinitis pigmentosa
RPGR	Orphanet:1872	Cone rod dystrophy
RPGR	Orphanet:244	Primary ciliary dyskinesia
RPGR	Orphanet:247522	Primary ciliary dyskinesia-retinitis pigmentosa syndrome
RPGR	Orphanet:49382	Achromatopsia
RPGR	Orphanet:791	Retinitis pigmentosa
SAG	Orphanet:75382	Oguchi disease
SAG	Orphanet:791	Retinitis pigmentosa
SEMA4A	Orphanet:1872	Cone rod dystrophy
SEMA4A	Orphanet:440437	Familial colorectal cancer Type X
SEMA4A	Orphanet:791	Retinitis pigmentosa
TULP1	Orphanet:65	Leber congenital amaurosis
TULP1	Orphanet:791	Retinitis pigmentosa
USH2A	Orphanet:231178	Usher syndrome type 2
USH2A	Orphanet:791	Retinitis pigmentosa
CLRN1	Orphanet:231183	Usher syndrome type 3
CLRN1	Orphanet:791	Retinitis pigmentosa
BEST1	Orphanet:1243	Best vitelliform macular dystrophy
BEST1	Orphanet:139455	Autosomal recessive bestrophinopathy
BEST1	Orphanet:263347	MRCS syndrome
BEST1	Orphanet:3086	Autosomal dominant vitreoretinochoroidopathy
BEST1	Orphanet:35612	Nanophthalmos
BEST1	Orphanet:791	Retinitis pigmentosa
BEST1	Orphanet:99000	Adult-onset foveomacular vitelliform dystrophy
SCAPER	Orphanet:110	Bardet-Biedl syndrome
SCAPER	Orphanet:791	Retinitis pigmentosa
ARL6	Orphanet:110	Bardet-Biedl syndrome
ARL6	Orphanet:791	Retinitis pigmentosa
CA4	Orphanet:791	Retinitis pigmentosa
CDHR1	Orphanet:1872	Cone rod dystrophy
CDHR1	Orphanet:791	Retinitis pigmentosa
PRPF31	Orphanet:791	Retinitis pigmentosa
KLHL7	Orphanet:157820	Cold-induced sweating syndrome
KLHL7	Orphanet:603684	KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
KLHL7	Orphanet:603689	KLHL7-related Bohring-Opitz-like syndrome
KLHL7	Orphanet:603694	KLHL7-related Crisponi/cold-induced sweating-like syndrome

Cohort genes → proteins

111 cohort genes, 111 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_and_clinvar	1
multi_evidence	110

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
EYS	HGNC:21555	ENSG00000188107	Q5T1H1	Protein eyes shut homolog	gwas,gencc,clinvar
RHO	HGNC:10012	ENSG00000163914	P08100	Rhodopsin	gencc,clinvar
RLBP1	HGNC:10024	ENSG00000140522	P12271	Retinaldehyde-binding protein 1	gencc,clinvar
RNF7	HGNC:10070	ENSG00000114125	Q9UBF6	RING-box protein 2	gencc,clinvar
ROM1	HGNC:10254	ENSG00000149489	Q03395	Rod outer segment membrane protein 1	gencc,clinvar
RP1	HGNC:10263	ENSG00000104237	P56715	Oxygen-regulated protein 1	gencc,clinvar
RP2	HGNC:10274	ENSG00000102218	O75695	Protein XRP2	gencc,clinvar
RP9	HGNC:10288	ENSG00000164610	Q8TA86	Retinitis pigmentosa 9 protein	gencc,clinvar
RPE65	HGNC:10294	ENSG00000116745	Q16518	Retinoid isomerohydrolase	gencc,clinvar
RPGR	HGNC:10295	ENSG00000156313	Q92834	X-linked retinitis pigmentosa GTPase regulator	gencc,clinvar
SAG	HGNC:10521	ENSG00000130561	P10523	S-arrestin	gencc,clinvar
SEMA4A	HGNC:10729	ENSG00000196189	Q9H3S1	Semaphorin-4A	gencc,clinvar
TULP1	HGNC:12423	ENSG00000112041	O00294	Tubby-related protein 1	gencc,clinvar
USH2A	HGNC:12601	ENSG00000042781	O75445	Usherin	gencc,clinvar
CLRN1	HGNC:12605	ENSG00000163646	P58418	Clarin-1	gencc,clinvar
BEST1	HGNC:12703	ENSG00000167995	O76090	Bestrophin-1	gencc,clinvar
SCAPER	HGNC:13081	ENSG00000140386	Q9BY12	S phase cyclin A-associated protein in the endoplasmic reticulum	gencc,clinvar
ARL6	HGNC:13210	ENSG00000113966	Q9H0F7	ADP-ribosylation factor-like protein 6	gencc,clinvar
CA4	HGNC:1375	ENSG00000167434	P22748	Carbonic anhydrase 4	gencc,clinvar
ADGRA3	HGNC:13839	ENSG00000152990	Q8IWK6	Adhesion G protein-coupled receptor A3	gencc,clinvar
CDHR1	HGNC:14550	ENSG00000148600	Q96JP9	Cadherin-related family member 1	gencc,clinvar
PRPF31	HGNC:15446	ENSG00000105618	Q8WWY3	U4/U6 small nuclear ribonucleoprotein Prp31	gencc,clinvar
KLHL7	HGNC:15646	ENSG00000122550	Q8IXQ5	Kelch-like protein 7	gencc,clinvar
PRPF6	HGNC:15860	ENSG00000101161	O94906	Pre-mRNA-processing factor 6	gencc,clinvar
KIZ	HGNC:15865	ENSG00000088970	Q2M2Z5	Centrosomal protein kizuna	gencc,clinvar
RP1L1	HGNC:15946	ENSG00000183638	Q8IWN7	Retinitis pigmentosa 1-like 1 protein	gencc,clinvar
ARL2BP	HGNC:17146	ENSG00000102931	Q9Y2Y0	ADP-ribosylation factor-like protein 2-binding protein	gencc,clinvar
DHX38	HGNC:17211	ENSG00000140829	Q92620	Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16	gencc,clinvar
PRPF8	HGNC:17340	ENSG00000174231	Q6P2Q9	Pre-mRNA-processing-splicing factor 8	gencc,clinvar
PRPF3	HGNC:17348	ENSG00000117360	O43395	U4/U6 small nuclear ribonucleoprotein Prp3	gencc,clinvar
IMPG2	HGNC:18362	ENSG00000081148	Q9BZV3	Interphotoreceptor matrix proteoglycan 2	gencc,clinvar
POMGNT1	HGNC:19139	ENSG00000085998	Q8WZA1	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	gencc,clinvar
RDH12	HGNC:19977	ENSG00000139988	Q96NR8	Retinol dehydrogenase 12	gencc,clinvar
TTC8	HGNC:20087	ENSG00000165533	Q8TAM2	Tetratricopeptide repeat protein 8	gencc,clinvar
SPATA7	HGNC:20423	ENSG00000042317	Q9P0W8	Spermatogenesis-associated protein 7	gencc,clinvar
DHDDS	HGNC:20603	ENSG00000117682	Q86SQ9	Dehydrodolichyl diphosphate synthase complex subunit DHDDS	gencc,clinvar
IFT88	HGNC:20606	ENSG00000032742	Q13099	Intraflagellar transport protein 88 homolog	gencc,clinvar
CNGA1	HGNC:2148	ENSG00000198515	P29973	Cyclic nucleotide-gated channel alpha-1	gencc,clinvar
CNGB1	HGNC:2151	ENSG00000070729	Q14028	Cyclic nucleotide-gated channel beta-1	gencc,clinvar
AHI1	HGNC:21575	ENSG00000135541	Q8N157	Jouberin	gencc,clinvar
TOPORS	HGNC:21653	ENSG00000197579	Q9NS56	E3 ubiquitin-protein ligase Topors	gencc,clinvar
CERKL	HGNC:21699	ENSG00000188452	Q49MI3	Ceramide kinase-like protein	gencc,clinvar
KIAA1549	HGNC:22219	ENSG00000122778	Q9HCM3	UPF0606 protein KIAA1549	gencc,clinvar
CRB1	HGNC:2343	ENSG00000134376	P82279	Protein crumbs homolog 1	gencc,clinvar
CRX	HGNC:2383	ENSG00000105392	O43186	Cone-rod homeobox protein	gencc,clinvar
ADIPOR1	HGNC:24040	ENSG00000159346	Q96A54	Adiponectin receptor protein 1	gencc,clinvar
FAM161A	HGNC:25808	ENSG00000170264	Q3B820	Protein FAM161A	gencc,clinvar
AGBL5	HGNC:26147	ENSG00000084693	Q8NDL9	Cytosolic carboxypeptidase-like protein 5	gencc,clinvar
ZNF513	HGNC:26498	ENSG00000163795	Q8N8E2	Zinc finger protein 513	gencc,clinvar
HGSNAT	HGNC:26527	ENSG00000165102	Q68CP4	Heparan-alpha-glucosaminide N-acetyltransferase	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
EYS	Protein eyes shut homolog	Required to maintain the integrity of photoreceptor cells.
RHO	Rhodopsin	Photoreceptor required for image-forming vision at low light intensity.
RLBP1	Retinaldehyde-binding protein 1	Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors.
RNF7	RING-box protein 2	Catalytic component of multiple cullin-5-RING E3 ubiquitin-protein ligase complexes (ECS complexes), which mediate the ubiquitination and subsequent proteasomal degradation of target proteins.
ROM1	Rod outer segment membrane protein 1	Plays a role in rod outer segment (ROS) morphogenesis.
RP1	Oxygen-regulated protein 1	Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors.
RP2	Protein XRP2	Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane.
RP9	Retinitis pigmentosa 9 protein	Is thought to be a target protein for the PIM1 kinase.
RPE65	Retinoid isomerohydrolase	Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins.
RPGR	X-linked retinitis pigmentosa GTPase regulator	Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP.
SAG	S-arrestin	Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO.
SEMA4A	Semaphorin-4A	Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling.
TULP1	Tubby-related protein 1	Required for normal development of photoreceptor synapses.
USH2A	Usherin	Involved in hearing and vision as member of the USH2 complex.
CLRN1	Clarin-1	May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.
BEST1	Bestrophin-1	Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+).
SCAPER	S phase cyclin A-associated protein in the endoplasmic reticulum	CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm.
ARL6	ADP-ribosylation factor-like protein 6	Involved in membrane protein trafficking at the base of the ciliary organelle.
CA4	Carbonic anhydrase 4	Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH.
ADGRA3	Adhesion G protein-coupled receptor A3	Orphan receptor that may have a role in planar cell polarity pathway.
CDHR1	Cadherin-related family member 1	Potential calcium-dependent cell-adhesion protein.
PRPF31	U4/U6 small nuclear ribonucleoprotein Prp31	Involved in pre-mRNA splicing as component of the spliceosome.
KLHL7	Kelch-like protein 7	Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.
PRPF6	Pre-mRNA-processing factor 6	Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome.
KIZ	Centrosomal protein kizuna	Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation.
RP1L1	Retinitis pigmentosa 1-like 1 protein	Required for the differentiation of photoreceptor cells.
ARL2BP	ADP-ribosylation factor-like protein 2-binding protein	Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3.
DHX38	Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16	Probable ATP-binding RNA helicase.
PRPF8	Pre-mRNA-processing-splicing factor 8	Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome.
PRPF3	U4/U6 small nuclear ribonucleoprotein Prp3	Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).
IMPG2	Interphotoreceptor matrix proteoglycan 2	Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment.
POMGNT1	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins.
RDH12	Retinol dehydrogenase 12	Retinoids dehydrogenase/reductase with a clear preference for NADP.
TTC8	Tetratricopeptide repeat protein 8	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
SPATA7	Spermatogenesis-associated protein 7	Involved in the maintenance of both rod and cone photoreceptor cells.
DHDDS	Dehydrodolichyl diphosphate synthase complex subunit DHDDS	With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery.
IFT88	Intraflagellar transport protein 88 homolog	Positively regulates primary cilium biogenesis.
CNGA1	Cyclic nucleotide-gated channel alpha-1	Pore-forming subunit of the rod cyclic nucleotide-gated channel.
CNGB1	Cyclic nucleotide-gated channel beta-1	Pore-forming subunit of the rod cyclic nucleotide-gated channel.
AHI1	Jouberin	Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium.
TOPORS	E3 ubiquitin-protein ligase Topors	Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase.
CERKL	Ceramide kinase-like protein	Has no detectable ceramide-kinase activity.
KIAA1549	UPF0606 protein KIAA1549	May play a role in photoreceptor function.
CRB1	Protein crumbs homolog 1	Plays a role in photoreceptor morphogenesis in the retina.
CRX	Cone-rod homeobox protein	Transcription factor that binds and transactivates the sequence 5’-TAATC[CA]-3’ which is found upstream of several photoreceptor-specific genes, including the opsin genes.
ADIPOR1	Adiponectin receptor protein 1	Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism.
FAM161A	Protein FAM161A	Involved in ciliogenesis.
AGBL5	Cytosolic carboxypeptidase-like protein 5	Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins.
ZNF513	Zinc finger protein 513	Transcriptional regulator that plays a role in retinal development and maintenance.
HGSNAT	Heparan-alpha-glucosaminide N-acetyltransferase	Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.

Protein-family classification

Druggable: 32 · Difficult: 21 · Unknown: 58 · Druggable fraction: 0.29

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Nuclear receptor	1	3.5×	0.722
Transporter	3	2.1×	0.722
Ion channel	2	2.0×	0.722
Enzyme (other)	14	1.5×	0.722
Kinase	5	1.2×	0.753
Scaffold/PPI	7	1.1×	0.753
Transcription factor	14	1.0×	0.753
Other/Unknown	58	0.9×	0.898
Protease	2	0.7×	0.898
GPCR	3	0.7×	0.898
Antibody/Immunoglobulin	2	0.5×	0.898

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
EYS	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G
RHO	GPCR	yes		GPCR_Rhodpsn, Rhodopsin, Opsin
RLBP1	Other/Unknown	no		CRAL-TRIO_dom, CRAL/TRIO_N_dom, CRAL/TRIO_N_dom_sf
RNF7	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_H2
ROM1	Other/Unknown	no		Peripherin/rom-1, Tetraspanin_EC2_sf, Peripherin/rom-1_CS
RP1	Other/Unknown	no		Doublecortin_dom, Doublecortin_dom_sf
RP2	Other/Unknown	no		CARP_motif, Tubulin-bd_cofactor_C_dom, CAP/MinC_C
RP9	Other/Unknown	no		PAP-1
RPE65	Enzyme (other)	yes	3.1.1.64	Carotenoid_Oase
RPGR	Other/Unknown	no		Reg_chr_condens, RCC1/BLIP-II, Signaling_Regulatory_Domain
SAG	Other/Unknown	no		Arrestin, Arrestin-like_N, Arrestin-like_C
SEMA4A	Scaffold/PPI	no		Semap_dom, Plexin_repeat, WD40/YVTN_repeat-like_dom_sf
TULP1	Other/Unknown	no		Tubby_C, Tubby_C_CS, Tubby-like_C
USH2A	Antibody/Immunoglobulin	yes		Laminin_G, LE_dom, FN3_dom
CLRN1	Other/Unknown	no		Clarin
BEST1	Other/Unknown	no		Bestrophin, Bestrophin-like
SCAPER	Transcription factor	no		Matrin/U1-like-C_Znf_C2H2, Znf_C2H2_type, SCAPER_N
ARL6	Other/Unknown	no		Small_GTP-bd, Small_GTPase_ARF/SAR, Small_GTPase_ARF
CA4	Enzyme (other)	yes	4.2.1.1	CA_dom, Carbonic_anhydrase_a-class_CS, Carbonic_anhydrase_a-class
ADGRA3	GPCR	yes		GPS, Cys-rich_flank_reg_C, GPCR_2_secretin-like
CDHR1	Other/Unknown	no		Cadherin-like_dom, Cadherin-like_sf, Cadherin_CS
PRPF31	Other/Unknown	no		Nop_dom, NOSIC, Prp31_C
KLHL7	Other/Unknown	no		BTB/POZ_dom, Kelch_1, SKP1/BTB/POZ_sf
PRPF6	Other/Unknown	no		HAT, PRP1_N, TPR-like_helical_dom_sf
KIZ	Other/Unknown	no		Centrosomal_kizuma
RP1L1	Other/Unknown	no		Doublecortin_dom, Doublecortin_dom_sf
ARL2BP	Other/Unknown	no		BART_dom, ARL2BP, BART_sf
DHX38	Other/Unknown	no		Helicase_C-like, DNA/RNA_helicase_DEAH_CS, Helicase-assoc_dom
PRPF8	Other/Unknown	no		JAMM/MPN+_dom, RNaseH-like_sf, PRO8NT
PRPF3	Other/Unknown	no		PWI_dom, Prp3_C, Pre-mRNA_splic_Prp3_dom
IMPG2	Other/Unknown	no		SEA_dom, EGF, SEA_dom_sf
POMGNT1	Enzyme (other)	yes	2.4.1.312	Glyco_trans_13, Nucleotide-diphossugar_trans, POMGNT1_PANDER-like
RDH12	Enzyme (other)	yes	1.1.1.105	SDR_fam, NAD(P)-bd_dom_sf
TTC8	Other/Unknown	no		TPR-like_helical_dom_sf, TPR_rpt, BBS8
SPATA7	Other/Unknown	no		SPATA7
DHDDS	Enzyme (other)	yes	2.5.1.87	UPP_synth-like, UPP_synth-like_CS, UPP_synth-like_sf
IFT88	Other/Unknown	no		Sel1-like, TPR-like_helical_dom_sf, TPR_rpt
CNGA1	Ion channel	yes		cNMP-bd_dom, Ion_trans_dom, RmlC-like_jellyroll
CNGB1	Ion channel	yes		cNMP-bd_dom, Ion_trans_dom, RmlC-like_jellyroll
AHI1	Scaffold/PPI	no		SH3_domain, WD40_rpt, WD40/YVTN_repeat-like_dom_sf
TOPORS	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS
CERKL	Kinase	yes		Diacylglycerol_kinase_cat_dom, NAD/diacylglycerol_kinase_sf, ATP-NAD_kinase_N
KIAA1549	Other/Unknown	no		KIAA1549
CRB1	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G
CRX	Transcription factor	no		HD, Homeodomain-like_sf, Otx_TF_C
ADIPOR1	Other/Unknown	no		AdipoR/HlyIII-related
FAM161A	Other/Unknown	no		FAM161A/B, FAM161
AGBL5	Protease	yes	3.4.17.24	Peptidase_M14, M14_AGBL5-like, Pepdidase_M14_N
ZNF513	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf
HGSNAT	Enzyme (other)	yes	2.3.1.78	HGSNAT_cat

Expression context

Cohort genes with no expression data: 0.

104 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	111
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	20
sperm	10
primordial germ cell in gonad	9
pigmented layer of retina	9
right uterine tube	9
buccal mucosa cell	9
ventricular zone	9
cortical plate	7
secondary oocyte	7
bronchial epithelial cell	6
left testis	6
adrenal tissue	6
cerebellar hemisphere	6
ganglionic eminence	6
retina	5
monocyte	5
tendon of biceps brachii	5
right lobe of liver	5
endothelial cell	5
C1 segment of cervical spinal cord	4

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
EYS	153	tissue_specific	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, islet of Langerhans
RHO	38	tissue_specific	marker	optic choroid, neuron projection bundle connecting eye with brain, diaphragm
RLBP1	126	tissue_specific	marker	pigmented layer of retina, retina, optic choroid
RNF7	292	ubiquitous	marker	left adrenal gland, left adrenal gland cortex, right adrenal gland
ROM1	201	broad	marker	primordial germ cell in gonad, C1 segment of cervical spinal cord, spinal cord
RP1	103	tissue_specific	marker	right uterine tube, olfactory segment of nasal mucosa, male germ line stem cell (sensu Vertebrata) in testis
RP2	242	ubiquitous	marker	monocyte, mononuclear cell, leukocyte
RP9	256	ubiquitous	marker	oocyte, left ventricle myocardium, hindlimb stylopod muscle
RPE65	92	tissue_specific	marker	pigmented layer of retina, retina, male germ line stem cell (sensu Vertebrata) in testis
RPGR	281	ubiquitous	marker	sperm, bronchial epithelial cell, right uterine tube
SAG	106	tissue_specific	marker	nucleus accumbens, male germ line stem cell (sensu Vertebrata) in testis, left testis
SEMA4A	219	broad	marker	monocyte, mononuclear cell, leukocyte
TULP1	134	tissue_specific	marker	primordial germ cell in gonad, tendon of biceps brachii, retina
USH2A	30	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, right lobe of liver, buccal mucosa cell
CLRN1	61	tissue_specific	marker	adrenal tissue, right adrenal gland cortex, right adrenal gland
BEST1	209	ubiquitous	marker	pigmented layer of retina, lateral globus pallidus, inferior olivary complex
SCAPER	282	ubiquitous	marker	cortical plate, male germ line stem cell (sensu Vertebrata) in testis, sural nerve
ARL6	228	ubiquitous	marker	oviduct epithelium, Brodmann (1909) area 23, endothelial cell
CA4	245	broad	marker	mucosa of transverse colon, rectum, cerebellar hemisphere
ADGRA3	265	ubiquitous	marker	ventricular zone, ganglionic eminence, right lobe of liver
CDHR1	186	broad	marker	upper arm skin, skin of leg, skin of abdomen
PRPF31	134	ubiquitous	marker	stromal cell of endometrium, granulocyte, ventricular zone
KLHL7	274	ubiquitous	marker	oocyte, secondary oocyte, heart right ventricle
PRPF6	289	ubiquitous	marker	tendon of biceps brachii, cortical plate, paraflocculus
KIZ	284	ubiquitous	marker	sperm, germinal epithelium of ovary, male germ cell
RP1L1	30	tissue_specific	yes	primordial germ cell in gonad, buccal mucosa cell, bone marrow cell
ARL2BP	280	ubiquitous	marker	adrenal tissue, smooth muscle tissue, ganglionic eminence
DHX38	250	ubiquitous	marker	sural nerve, left ovary, right ovary
PRPF8	145	ubiquitous	marker	adenohypophysis, pituitary gland, ventricular zone
PRPF3	290	ubiquitous	marker	sural nerve, right uterine tube, left ovary

Protein interactions among cohort

Intra-cohort edges: 440.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
EP300	10,122
PRPF8	5,582
SNRNP200	4,118
NEK2	3,608
RHO	3,578
RDH12	3,526
DHX38	3,449
PRPF31	3,427
FAM161A	3,370
PRPF3	3,366

Intra-cohort edges

A	B	Sources
ABCA4	BEST1	string_interaction
ABCA4	CDHR1	string_interaction
ABCA4	CERKL	string_interaction
ABCA4	CNGB1	biogrid_interaction, string_interaction
ABCA4	EYS	string_interaction
ABCA4	IMPG1	string_interaction
ABCA4	IMPG2	string_interaction
ABCA4	PCARE	string_interaction
ABCA4	PROM1	string_interaction
ABCA4	PRPH2	string_interaction
ABCA4	RAX2	string_interaction
ABCA4	RDH12	string_interaction
ABCA4	RGR	string_interaction
ABCA4	RHO	string_interaction
ABCA4	RP1L1	string_interaction
ABCA4	RPE65	string_interaction
ABCA4	RPGR	string_interaction
ABCA4	SEMA4A	string_interaction
ABCA4	TULP1	string_interaction
AHI1	OFD1	biogrid_interaction, intact, string_interaction
AHI1	SPATA7	intact
AHR	EP300	intact
ALMS1	BBS2	string_interaction
ALMS1	POC5	biogrid_interaction
ALMS1	RHO	string_interaction
ARL2BP	ARL3	biogrid_interaction, intact, string_interaction
ARL2BP	RP1L1	string_interaction
ARL2BP	RPGR	string_interaction
ARL2BP	TTC8	string_interaction
ARL3	IFT88	string_interaction
ARL3	RP1L1	intact
ARL3	RP2	biogrid_interaction, intact, string_interaction
ARL3	RPGR	string_interaction
ARL6	BBS2	string_interaction
ARL6	TTC8	string_interaction
BBS2	TTC8	biogrid_interaction, intact, string_interaction
BEST1	CRX	string_interaction
BEST1	EYS	string_interaction
BEST1	FSCN2	string_interaction
BEST1	IMPG1	string_interaction
BEST1	IMPG2	string_interaction
BEST1	MERTK	string_interaction
BEST1	PRCD	string_interaction
BEST1	PRPF31	string_interaction
BEST1	PRPH2	string_interaction
BEST1	RDH12	string_interaction
BEST1	RLBP1	string_interaction
BEST1	RPE65	string_interaction
BEST1	RPGR	string_interaction
CA4	CERKL	string_interaction

Structural data

PDB: 52 · AlphaFold-only: 59 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PRPF8	Q6P2Q9	101
SNRNP200	O75643	81
EP300	Q09472	60
MERTK	Q12866	42
PRPF6	O94906	33
FDFT1	P37268	32
PRPF31	Q8WWY3	30
PRPF3	O43395	30
NEK2	P51955	30
PRPF4	O43172	25
BEST1	O76090	19
CNGA1	P29973	19
IDH3A	P50213	19
IMPDH1	P20839	18
HGSNAT	Q68CP4	12
IDH3G	P51553	12
CNGB1	Q14028	11
CA4	P22748	10
POMGNT1	Q8WZA1	10
AGBL5	Q8NDL9	10
DHDDS	Q86SQ9	9
IDH3B	O43837	9
ABCA4	P78363	8
RNF7	Q9UBF6	7
RHO	P08100	4
RLBP1	P12271	4
DHX38	Q92620	4
IFT140	Q96RY7	4
DYNC2I2	Q96EX3	4
RP2	O75695	3

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
GDPD1	Q8N9F7	96.12
RPE65	Q16518	95.34
FSCN2	O14926	93.79
HKDC1	Q2TB90	93.37
ARL3	P36405	92.73
RDH12	Q96NR8	92.21
YPEL2	Q96QA6	91.14
CLRN1	P58418	90.74
RGR	P47804	90.04
PDE6A	P16499	89.80
PDE6B	P35913	89.72
BBS2	Q9BXC9	89.49
DHX32	Q7L7V1	86.34
PROM1	O43490	85.68
SAG	P10523	85.44
RBP3	P10745	85.10
SEMA4A	Q9H3S1	85.05
TTC8	Q8TAM2	84.48
SLC37A3	Q8NCC5	84.11
LRAT	O95237	83.69
SLC66A1	Q6ZP29	83.40
SGPP2	Q8IWX5	83.19
SCLT1	Q96NL6	82.44
CERKL	Q49MI3	79.82
RP9	Q8TA86	78.99
CDHR1	Q96JP9	78.79
IFT88	Q13099	77.20
MAPRE2	Q15555	75.12
REEP6	Q96HR9	73.80
SLC7A14	Q8TBB6	72.68

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 437. Enrichment computed across 233 evidence-associated genes (138 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 138 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Activation of the phototransduction cascade	9	62.1×	4e-13	RHO, SAG, CNGA1, CNGB1, PDE6A, PDE6B, PDE6G, SLC24A1 (+1 more)
Cilium Assembly	16	12.6×	2e-11	ARL6, AHI1, ALMS1, ARL3, BBS2, BBS7, CEP76, CEP78 (+8 more)
Inactivation, recovery and regulation of the phototransduction cascade	11	25.3×	4e-11	RHO, SAG, CNGA1, CNGB1, GUCA1B, PDE6A, PDE6B, PDE6G (+3 more)
The canonical retinoid cycle in rods (twilight vision)	9	33.9×	2e-10	RHO, RLBP1, RPE65, RDH12, ABCA4, LRAT, RBP3, CYP4V2 (+1 more)
BBSome-mediated cargo-targeting to cilium	9	32.4×	3e-10	ARL6, TTC8, BBS2, BBS7, BBS10, BBS12, BBS9, BBS1 (+1 more)
Organelle biogenesis and maintenance	17	8.1×	2e-09	ARL6, AHI1, ALMS1, ARL3, BBS2, SIRT4, BBS7, CEP76 (+9 more)
Anchoring of the basal body to the plasma membrane	11	9.0×	2e-06	AHI1, ALMS1, CEP250, NPHP4, OFD1, CEP76, CEP78, SCLT1 (+3 more)
Cargo trafficking to the periciliary membrane	8	14.4×	4e-06	ARL6, ARL3, BBS2, BBS7, BBS10, BBS12, BBS1, BBS4
Intraflagellar transport	7	10.2×	3e-04	IFT88, IFT140, IFT172, IFT81, WDR19, DYNC2I2, DYNC2H1
Visual phototransduction	6	11.3×	6e-04	RPE65, SAG, ABCA4, LRAT, SLC24A1, MYO7A
Loss of Nlp from mitotic centrosomes	7	8.1×	9e-04	ALMS1, CEP250, OFD1, CEP76, CEP78, CEP290, NEK2
Loss of proteins required for interphase microtubule organization from the centrosome	7	8.1×	9e-04	ALMS1, CEP250, OFD1, CEP76, CEP78, CEP290, NEK2
AURKA Activation by TPX2	7	7.7×	0.001	ALMS1, CEP250, OFD1, CEP76, CEP78, CEP290, NEK2
Recruitment of mitotic centrosome proteins and complexes	7	6.9×	0.002	ALMS1, CEP250, OFD1, CEP76, CEP78, CEP290, NEK2
Regulation of PLK1 Activity at G2/M Transition	7	6.4×	0.003	ALMS1, CEP250, OFD1, CEP76, CEP78, CEP290, NEK2
Hedgehog ‘off’ state	6	7.8×	0.003	IFT88, IFT140, IFT172, WDR19, OFD1, DYNC2H1
Recruitment of NuMA to mitotic centrosomes	7	5.9×	0.005	ALMS1, CEP250, OFD1, CEP76, CEP78, CEP290, NEK2
Centrosome maturation	5	9.2×	0.005	ALMS1, CEP76, CEP78, CEP290, NEK2
Sensory processing of sound by outer hair cells of the cochlea	5	7.4×	0.013	USH1C, CDH23, PCDH15, FSCN2, MYO7A
Sensory Perception	7	4.8×	0.013	RPE65, SAG, ABCA4, LRAT, SLC24A1, CDH23, MYO7A
Retinoid cycle disease events	2	41.4×	0.016	ABCA4, LRAT
Diseases associated with visual transduction	2	41.4×	0.016	ABCA4, LRAT
Diseases of the neuronal system	2	41.4×	0.016	ABCA4, LRAT
Ca2+ pathway	5	6.5×	0.019	PDE6A, PDE6B, PDE6G, CAMK2A, ITPR2
Trafficking of myristoylated proteins to the cilium	2	33.1×	0.025	RP2, ARL3
Sensory processing of sound by inner hair cells of the cochlea	5	5.9×	0.026	USH1C, CDH23, PCDH15, FSCN2, MYO7A
The retinoid cycle in cones (daylight vision)	2	23.6×	0.047	RLBP1, RBP3
mRNA Splicing - Major Pathway	8	3.2×	0.060	PRPF31, PRPF6, DHX38, PRPF8, PRPF3, SNRNP200, CWC27, PRPF4
Citric acid cycle (TCA cycle)	3	9.2×	0.062	IDH3A, IDH3B, IDH3G
Mitotic G2-G2/M phases	5	4.6×	0.065	ALMS1, CEP76, CEP78, CEP290, NEK2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 205 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
visual perception	68	26.4×	3e-77	RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, TULP1 (+60 more)
photoreceptor cell maintenance	28	49.0×	1e-39	RHO, RP1, TULP1, USH2A, CLRN1, CDHR1, RP1L1, RDH12 (+20 more)
photoreceptor cell outer segment organization	13	66.8×	2e-20	ROM1, RP1, CDHR1, RP1L1, CNGB1, AHI1, TOPORS, CRB1 (+5 more)
detection of light stimulus involved in visual perception	14	44.3×	2e-18	EYS, ROM1, RPE65, TULP1, BEST1, CNGB1, CRB1, REEP6 (+6 more)
cilium assembly	26	9.3×	1e-15	RP2, RPGR, ARL6, TTC8, IFT88, AHI1, FAM161A, IFT140 (+18 more)
retina development in camera-type eye	16	19.9×	1e-14	RP1, TULP1, SCAPER, RP1L1, CRX, ZNF513, MERTK, NR2E3 (+8 more)
non-motile cilium assembly	14	19.8×	1e-12	TTC8, IFT88, IFT140, IFT172, MAK, BBS2, RPGRIP1, CEP250 (+6 more)
sensory perception of light stimulus	7	63.9×	2e-10	USH2A, CLRN1, USH1C, CDH23, PCDH15, ADGRV1, MYO7A
intraciliary transport	10	27.4×	2e-10	RPGR, IFT88, IFT172, MAK, ARL3, TUB, IFT81, BBS12 (+2 more)
protein localization to photoreceptor outer segment	6	70.5×	2e-09	ROM1, TULP1, SPATA7, PCARE, TUB, BBS4
eye photoreceptor cell development	8	32.9×	5e-09	RPGR, TULP1, POC5, NR2E3, CEP290, FSCN2, GNAT1, MYO7A
protein localization to cilium	10	19.6×	5e-09	TULP1, ARL6, IFT140, ARL3, TUB, CEP78, DYNC2H1, BBS9 (+2 more)
retina homeostasis	7	38.4×	2e-08	RPE65, TULP1, CNGB1, CDH3, CRB2, AIPL1, BBS4
phototransduction, visible light	6	37.9×	4e-07	RHO, RP1, ABCA4, PDE6B, AIPL1, GNAT1
equilibrioception	5	58.7×	4e-07	CLRN1, USH1C, CDH23, PCDH15, MYO7A
retinal rod cell development	5	41.1×	4e-06	RP1, SAMD11, NRL, RPGRIP1, BBS4
fat cell differentiation	10	8.8×	1e-05	ARL6, TTC8, BBS2, BBS7, NOC3L, BBS12, BBS9, EP300 (+2 more)
cellular response to light stimulus	5	25.7×	6e-05	RHO, RP1, CRB1, RGR, TRPM1
retinoid metabolic process	6	14.5×	2e-04	RPE65, RDH12, ABCA4, LRAT, RBP3, CYP4V2
phototransduction	6	14.5×	2e-04	RHO, CNGB1, GUCA1B, NR2E3, RGR, GUCA1A
sensory perception of sound	11	5.4×	3e-04	USH2A, CLRN1, POMGNT1, TUB, USH1C, CDH23, PCDH15, ADGRV1 (+3 more)
photoreceptor cell development	3	61.6×	3e-04	RP1, RP1L1, ARL3
retina layer formation	5	15.8×	6e-04	ARL6, TOPORS, CRB1, PROM1, LARGE1
isocitrate metabolic process	3	49.3×	7e-04	IDH3A, IDH3B, IDH3G
G protein-coupled opsin signaling pathway	3	49.3×	7e-04	RHO, SAG, GNAT1
maintenance of animal organ identity	3	49.3×	7e-04	USH2A, ADGRV1, IQCB1
camera-type eye photoreceptor cell differentiation	3	49.3×	7e-04	ROM1, TTC8, PROM1
spliceosomal tri-snRNP complex assembly	4	21.9×	1e-03	PRPF31, PRPF6, PRPF8, PRPF3
intraciliary retrograde transport	4	21.9×	1e-03	IFT140, WDR19, DYNC2I2, DYNC2H1
photoreceptor cell morphogenesis	3	41.1×	0.001	CDHR1, CFAP418, BBS1

Therapeutics

Drugs indicated for this disease

1 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Voretigene Neparvovec	Approved (phase 4)
Acetylcysteine	Phase 3 (in late-stage trials)
Doconexent	Phase 3 (in late-stage trials)
Retinol	Phase 3 (in late-stage trials)
Unoprostone Isopropyl	Phase 3 (in late-stage trials)
Vitamin E	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ciliary Neurotrophic Factor, Levodopa, Methotrexate, Valproic Acid.

Drug target analysis

Approved (phase 4): 11 · Phase ≥3: 14 · Phased (≥1): 19 · Undrugged: 92

Druggability breadth: 62 of 233 evidence-associated genes (27%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
CA4	METHAZOLAMIDE
SNRNP200	GILTERITINIB
IMPDH1	MYCOPHENOLIC ACID
MERTK	FEDRATINIB
PDE6A	VARDENAFIL
PDE6B	VARDENAFIL
PDE6G	VARDENAFIL
HKDC1	CHLORHEXIDINE
AHR	TAPINAROF
FDFT1	AMIODARONE
NEK2	VEMURAFENIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CA4	59	4
MERTK	48	4
NEK2	23	4
EP300	9	3
AHR	9	4
PDE6A	8	4
MAK	7	3
PDE6B	6	4
PDE6G	6	4
FDFT1	3	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
METHAZOLAMIDE	4	CA4
ACETAZOLAMIDE	4	CA4
ZONISAMIDE	4	CA4
TRICHLORMETHIAZIDE	4	CA4
CHLORTHALIDONE	4	CA4
SODIUM PHOSPHATE, DIBASIC, ANHYDROUS	4	CA4
ACETAMINOPHEN	4	CA4
POTASSIUM IODIDE	4	CA4
CELECOXIB	4	CA4
PYRITHIONE ZINC	4	CA4
POTASSIUM CHLORIDE	4	CA4
LEVETIRACETAM	4	CA4
SODIUM CITRATE	4	CA4
SODIUM BENZOATE	4	CA4
PHENOL	4	CA4
DICHLORPHENAMIDE	4	CA4
ETHOXZOLAMIDE	4	CA4
SULFANILAMIDE	4	CA4
VERALIPRIDE	4	CA4
DORZOLAMIDE	4	CA4
BRINZOLAMIDE	4	CA4
TOPIRAMATE	4	CA4
NILOTINIB	4	CA4
BORTEZOMIB	4	CA4
FUROSEMIDE	4	CA4
INDAPAMIDE	4	CA4
MAFENIDE	4	CA4
SALICYLIC ACID	4	CA4
HYDROQUINONE	4	CA4
LACOSAMIDE	4	CA4

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 20.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
EP300	767	Binding:763, Functional:3, ADMET:1
NEK2	471	Binding:469, Functional:1, ADMET:1
MERTK	443	Binding:442, Functional:1
AHR	293	Binding:225, ADMET:58, Functional:7, Toxicity:3
CA4	202	Binding:195, ADMET:6, Functional:1
MAK	94	Binding:94
PDE6A	69	Binding:65, ADMET:3, Functional:1
PDE6B	57	Binding:54, ADMET:3
PDE6G	51	Binding:49, ADMET:2
IMPDH1	46	Binding:40, Functional:6
FDFT1	40	Binding:40
SNRNP200	25	Binding:25
PRPF6	8	Binding:8
PRPF8	8	Binding:8
PRPF4	8	Binding:8
HKDC1	7	Functional:6, Binding:1
PRPF31	6	Binding:6
PRPF3	6	Binding:6
NR2E3	6	Functional:5, Binding:1
ADGRA3	2	Binding:2
IDH3A	2	Binding:2
RHO	1	Binding:1
RP1	1	Binding:1
KLHL7	1	Binding:1
POMGNT1	1	Binding:1
ADIPOR1	1	Binding:1
IDH3B	1	Binding:1
LRAT	1	Binding:1
MAPRE2	1	Binding:1
SLC4A7	1	Binding:1
DHX32	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RPE65	3.1.1.64, 5.3.3.22	retinoid isomerohydrolase, lutein isomerase
CA4	4.2.1.1	carbonic anhydrase
POMGNT1	2.4.1.312	protein O-mannose beta-1,4-N-acetylglucosaminyltransferase
RDH12	1.1.1.105, 1.1.1.300	all-trans-retinol dehydrogenase (NAD+), NADP-retinol dehydrogenase
DHDDS	2.5.1.87	ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific]
AGBL5	3.4.17.24	tubulin-glutamate carboxypeptidase
HGSNAT	2.3.1.78	heparan-alpha-glucosaminide N-acetyltransferase
SNRNP200	3.6.4.13	RNA helicase
IDH3A	1.1.1.41	isocitrate dehydrogenase (NAD+)
IDH3B	1.1.1.41	isocitrate dehydrogenase (NAD+)
IMPDH1	1.1.1.205	IMP dehydrogenase
LRAT	2.3.1.135	phosphatidylcholine-retinol O-acyltransferase
MAK	2.7.11.22	cyclin-dependent kinase
MERTK	2.7.10.1	receptor protein-tyrosine kinase
GDPD1	3.1.4.46	glycerophosphodiester phosphodiesterase
HKDC1	2.7.1.1	hexokinase
EP300	2.3.1.48	histone acetyltransferase
FDFT1	2.5.1.21	squalene synthase
IDH3G	1.1.1.41	isocitrate dehydrogenase (NAD+)
NEK2	2.7.11.1	non-specific serine/threonine protein kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
CA4	202
MERTK	443
EP300	767
AHR	293
NEK2	471

Pharmacogenomics

Cohort genes with a PharmGKB record: 111; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
METHAZOLAMIDE	4	CA4
ACETAZOLAMIDE	4	CA4
ZONISAMIDE	4	CA4
TRICHLORMETHIAZIDE	4	CA4
CHLORTHALIDONE	4	CA4
SODIUM PHOSPHATE, DIBASIC, ANHYDROUS	4	CA4
ACETAMINOPHEN	4	CA4
POTASSIUM IODIDE	4	CA4
CELECOXIB	4	CA4
PYRITHIONE ZINC	4	CA4
POTASSIUM CHLORIDE	4	CA4
LEVETIRACETAM	4	CA4
SODIUM CITRATE	4	CA4
SODIUM BENZOATE	4	CA4
PHENOL	4	CA4
DICHLORPHENAMIDE	4	CA4
ETHOXZOLAMIDE	4	CA4
SULFANILAMIDE	4	CA4
VERALIPRIDE	4	CA4
DORZOLAMIDE	4	CA4
BRINZOLAMIDE	4	CA4
TOPIRAMATE	4	CA4
NILOTINIB	4	CA4
BORTEZOMIB	4	CA4
FUROSEMIDE	4	CA4
INDAPAMIDE	4	CA4
MAFENIDE	4	CA4
SALICYLIC ACID	4	CA4
HYDROQUINONE	4	CA4
LACOSAMIDE	4	CA4

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	11	CA4, SNRNP200, IMPDH1, MERTK, PDE6A, PDE6B, PDE6G, HKDC1, AHR, FDFT1 (+1 more)
B	Phased (≥1) drug, not yet approved	8	PRPF31, PRPF6, PRPF8, PRPF3, LRAT, MAK, PRPF4, EP300
C	Druggable family + PDB, no drug	13	RHO, POMGNT1, DHDDS, CNGA1, CNGB1, AGBL5, HGSNAT, ABCA4, IDH3A, IDH3B (+3 more)
D	Druggable family + AlphaFold only, no drug	10	RPE65, USH2A, ADGRA3, RDH12, CERKL, RBP3, RGR, SLC37A3, SLC39A12, GDPD1
E	Difficult family or no structure, no drug	69	EYS, RLBP1, RNF7, ROM1, RP1, RP2, RP9, RPGR, SAG, SEMA4A (+59 more)

Undrugged target profiles

92 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
EYS	0	PRPF31
RP1	1	PDE6B
RP9	0	PRPF31, PRPF3, PRPF8
RPE65	0	LRAT
SEMA4A	0	PRPF3
TULP1	0	MERTK, LRAT
KLHL7	1	PRPF31
RDH12	0	IMPDH1
SPATA7	0	LRAT
CNGA1	0	PDE6B, PDE6A, PDE6G
CNGB1	0	PDE6A
TOPORS	0	PRPF31, PRPF3
CERKL	0	PDE6A
FAM161A	0	PDE6B
ZNF513	0	PDE6G
PRCD	0	PDE6A
GUCA1B	0	PDE6B, MERTK
PRPH2	0	PDE6B
CEP250	0	NEK2
FSCN2	0	PRPF31, PRPF3
RHO	1	—
RLBP1	0	—
RNF7	0	—
ROM1	0	—
RP2	0	—
RPGR	0	—
SAG	0	—
USH2A	0	—
CLRN1	0	—
BEST1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 234.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	132
PHASE1/PHASE2	36
PHASE2	23
PHASE1	21
PHASE3	12
EARLY_PHASE1	5
PHASE2/PHASE3	4
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05909488	PHASE2/PHASE3	NOT_YET_RECRUITING	Role of UC-MSC and CM to Inhibit Vision Loss in Retinitis Pigmentosa Phase I/II
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05158296	PHASE2/PHASE3	TERMINATED	Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
NCT05176717	PHASE2/PHASE3	TERMINATED	Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)
NCT05413148	PHASE2/PHASE3	UNKNOWN	The Effect of Stem Cells and Stem Cell Exosomes on Visual Functions in Patients With Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT02018692	PHASE1/PHASE2	NOT_YET_RECRUITING	The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa
NCT03374657	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa
NCT03963154	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Interventional Study of Implantation of hESC-derived RPE in Patients With RP Due to Monogenic Mutation
NCT04278131	PHASE1/PHASE2	RECRUITING	BS01 in Patients With Retinitis Pigmentosa
NCT04611503	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	PDE6A Gene Therapy for Retinitis Pigmentosa
NCT05203939	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
NCT05748873	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Promising ROd-cone DYstrophy Gene therapY
NCT06242379	PHASE1/PHASE2	RECRUITING	Safety and Efficacy of Stem Cell Small Extracellular Vesicles in Patients With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06787482	PHASE1/PHASE2	RECRUITING	Evaluating a New Peptide Therapy for Retinal Diseases: AMD, Diabetic Retinopathy, and Dystrophies
NCT06789445	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT06891885	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of DSP-3077 After a Unilateral Eye Injection in Male and Female Participants 18 Years of Age or Older With Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT06952842	PHASE1/PHASE2	NOT_YET_RECRUITING	Safety and Efficacy of ZVS203e in the Treatment of Retinitis Pigmentosa Caused by RHO Gene Mutation
NCT07282457	PHASE1/PHASE2	NOT_YET_RECRUITING	Prospective, Randomized, Sham-controlled, Dose-finding I/II Trial of Safety and Efficacy of Modified Optogenetic Gene Therapy (ZM-02 Injection)
NCT07341919	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Subtenon Autologous Platelet-Rich Plasma in Inherited and Degenerative Retinal Diseases
NCT07348588	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Intravitreal Adalimumab in Inherited and Degenerative Retinal Diseases
NCT07408232	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Phase 1/2 Study in Healthy Volunteers and Participants With Autosomal Dominant Retinitis Pigmentosa (RHO-adRP)
NCT07509229	PHASE1/PHASE2	NOT_YET_RECRUITING	9-cis Beta-Carotene-Rich Extract of Dunaliella Alga in Retinitis Pigmentosa Patients
NCT00029289	PHASE1/PHASE2	COMPLETED	Effects of Lutein in Retinitis Pigmentosa
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
RETINOL	4	3
CENEGERMIN	4	2
VALPROIC ACID	4	2
DISULFIRAM	4	1
MINOCYCLINE	4	1
UNOPROSTONE ISOPROPYL	4	1
VITAMIN E	4	1
CILIARY NEUROTROPHIC FACTOR	3	2
DOCONEXENT	3	2
LUTEIN	3	2
STARCH, CORN	3	1
XYLITOL	3	1
ULTEVURSEN	2	1
ZURETINOL ACETATE	2	1
BALURETGENE PARVEC	1	1
KIO-301	1	1
CHEMBL4439413	0	2
CHEMBL5435500	0	2
CHEMBL5417591	0	1
ALPHA-TOCOPHEROL	0	1

Cohort genes: EYS, RHO, RLBP1, RNF7, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, SCAPER, ARL6, CA4, ADGRA3, CDHR1, PRPF31, KLHL7, PRPF6, KIZ, RP1L1, ARL2BP, DHX38, PRPF8, PRPF3, IMPG2, POMGNT1, RDH12, TTC8, SPATA7, DHDDS, IFT88, CNGA1, CNGB1, AHI1, TOPORS, CERKL, KIAA1549, CRB1, CRX, ADIPOR1, FAM161A, AGBL5, ZNF513, HGSNAT, POC5, SAMD11, IFT140, SLC7A14, REEP6, IFT172, SNRNP200, RGL4, PRCD, ABCA4, PCARE, GUCA1B, IDH3A, IDH3B, IMPDH1, IMPG1, LRAT, MAK, MAPRE2, ARL3, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PROM1, BBS2, RBP3, PRPH2, RGR, ALMS1, SLC4A7, SPP2, TUB, DSCAML1, DHX32, ARHGEF18, PRPF4, RAX2, YPEL2, CEP250, CRB2, SGPP2, ZNF408, SLC37A3, SLC39A12, GDPD1, HKDC1, OFD1, SLC66A1, SCLT1, DYNC2I2, CLCC1, EP300, AHR, FDFT1, FSCN2, IDH3G, NEK2, NEUROD1
Drugs: Retinol, Cenegermin, Valproic Acid, Disulfiram, Minocycline, Unoprostone Isopropyl, Vitamin E, Ciliary Neurotrophic Factor, Doconexent, Starch, Corn, Xylitol