Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
RETINITIS PIGMENTOSA	C0035334 791 MONDO:0019200 268000 MESH:D012174PS268000MONDO_0019200	MFRP	Unknown	—	Disgenet	—
		NEK2	Unknown	24043777	Disgenet, GWAS catalog, Orphanet	APC-Cdc20 mediated degradation of Nek2A Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes +5 more
		NEUROD1	Unknown	25477324	CTD, Disgenet	Maturity onset diabetes of the young Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
		NYX	Unknown	—	Disgenet	—
		OFD1	Unknown	22619378	Disgenet, GWAS catalog, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		OPA1	Unknown	—	Disgenet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		OR4F5	Unknown	—	Disgenet	Olfactory transduction Olfactory Signaling Pathway
		PCDH15	Unknown	—	Disgenet	—
		PITPNM3	Unknown	—	Disgenet	Synthesis of PI
		POC5	Unknown	29272404	CTD, Disgenet	—
		POMGNT1	Unknown	26908613	Disgenet, GWAS catalog, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 +1 more
		PRPF4	Unknown	24419317	CTD, Disgenet, Orphanet	Spliceosome mRNA Splicing - Major Pathway
		PRPS1	Unknown	—	Disgenet	Pentose phosphate pathway Purine metabolism Metabolic pathways +3 more
		RAB28	Unknown	—	Disgenet	—
		RAX2	Unknown	30377383	ClinVar, Disgenet	—
		RDH5	Unknown	—	Disgenet	Retinol metabolism Metabolic pathways Retinoid cycle disease events +2 more
		RILP	Unknown	—	Disgenet	Phagosome Salmonella infection MHC class II antigen presentation
		RIMS1	Unknown	—	Disgenet	Synaptic vesicle cycle Retrograde endocannabinoid signaling Serotonin Neurotransmitter Release Cycle +5 more
		ROM1	Unknown	20301590	CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	—
		RP1L1	Unknown	25324289 23281133 31213501 30025130 31833436	Disgenet, GWAS catalog, Orphanet	—
		RP9	Unknown	20301590	Disgenet, Orphanet	Spliceosome
		SAMD11	Unknown	27734943	Disgenet, GWAS catalog	—
		SCLT1	Unknown	28005958	Disgenet, Orphanet	Anchoring of the basal body to the plasma membrane
		SEMA3E	Unknown	34594039	GWAS catalog	Axon guidance Other semaphorin interactions
		SERPINF1	Unknown	—	Disgenet	Wnt signaling pathway
		SLC19A1	Unknown	—	Disgenet	Antifolate resistance Vitamin digestion and absorption Folate transport and metabolism +1 more
		SLC37A3	Unknown	28041643 35486108	Disgenet, GWAS catalog	—
		SLC39A12	Unknown	35486108	GWAS catalog	Alzheimer disease Parkinson disease
		SLC4A7	Unknown	32594822 35486108	GWAS catalog	Bicarbonate transporters
		SLC7A14	Unknown	24670872	ClinVar, Disgenet, Orphanet	—
		SMIM27	Unknown	—	Disgenet	—
		SNX17	Unknown	—	Disgenet	—
		SOD1	Unknown	—	Disgenet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
		SPP2	Unknown	26459573	ClinVar, Disgenet	Platelet degranulation Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		TFPT	Unknown	—	Disgenet	ATP-dependent chromatin remodeling UCH proteinases DNA Damage Recognition in GG-NER
		TMEM216	Unknown	39191256	Disgenet, Orphanet	Anchoring of the basal body to the plasma membrane
		TMEM271	Unknown	34594039	GWAS catalog	—
		TRPM1	Unknown	—	Disgenet	TRP channels
		TSPAN1	Unknown	—	Disgenet	—
		TTC8	Unknown	20301590	ClinVar, Disgenet, Orphanet	BBSome-mediated cargo-targeting to cilium
		TTPA	Unknown	10896705	CTD, Disgenet	Vitamin E
		TUB	Unknown	24375934	Disgenet, GWAS catalog, Orphanet	—
		UNC119	Unknown	11006213	CTD, Disgenet	—
		WDR19	Unknown	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
		YPEL2	Unknown	33022222	ClinVar, Disgenet	—
		ZDHHC24	Unknown	—	Disgenet	—
		ZFYVE26	Unknown	—	Disgenet	—
		ZNF408	Unknown	25882705	Disgenet, GWAS catalog, Orphanet	—
		ZNF513	Unknown	20301590	Disgenet, Orphanet	—
RETINITIS PIGMENTOSA 1	C0220701 MESH:C538365	ABCA4	Unknown	—	CTD, Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		MFRP	Unknown	—	CTD, Disgenet	—
		NEK2	Unknown	—	CTD	APC-Cdc20 mediated degradation of Nek2A Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes +5 more
		NEUROD1	Unknown	25684977 22784109 29521454 25477324	CTD	Maturity onset diabetes of the young Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
		NYX	Unknown	—	CTD	—
		OFD1	Unknown	—	CTD, Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		OPA1	Unknown	—	CTD	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		PCDH15	Unknown	—	CTD	—
		PITPNM3	Unknown	—	CTD	Synthesis of PI
		POC5	Unknown	—	CTD	—
		POMGNT1	Unknown	—	CTD, Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 +1 more
		PRPF4	Unknown	—	CTD	Spliceosome mRNA Splicing - Major Pathway
		PRPS1	Unknown	—	CTD, Disgenet	Pentose phosphate pathway Purine metabolism Metabolic pathways +3 more
		RAB28	Unknown	—	CTD	—
		RAX2	Unknown	—	CTD, Disgenet	—
		RDH5	Unknown	—	CTD	Retinol metabolism Metabolic pathways Retinoid cycle disease events +2 more
		RIMS1	Unknown	—	CTD	Synaptic vesicle cycle Retrograde endocannabinoid signaling Serotonin Neurotransmitter Release Cycle +5 more
		ROM1	Unknown	—	CTD, Disgenet	—
		RP1L1	Unknown	—	CTD	—
		RP9	Unknown	—	CTD	Spliceosome
		SAMD11	Unknown	27734943	CTD	—
		SERPINF1	Unknown	—	Disgenet	Wnt signaling pathway
		SLC4A7	Unknown	—	CTD	Bicarbonate transporters
		SLC7A14	Unknown	—	CTD	—
		SOD1	Unknown	—	Disgenet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
		SPP2	Unknown	26459573	CTD	Platelet degranulation Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		TMEM216	Unknown	—	CTD	Anchoring of the basal body to the plasma membrane
		TRPM1	Unknown	—	CTD	TRP channels
		TTC8	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		TTPA	Unknown	—	CTD, Disgenet	Vitamin E
		TUB	Unknown	—	CTD	—
		UNC119	Unknown	—	CTD, Disgenet	—
		WDR19	Unknown	—	CTD, Disgenet	Hedgehog 'off' state Intraflagellar transport
		YPEL2	Unknown	—	CTD	—
		ZNF408	Unknown	—	CTD	—
		ZNF513	Unknown	—	CTD	—
RETINITIS PIGMENTOSA 53	C3150208	ZFYVE26	Unknown	—	Disgenet	—
RETINITIS PIGMENTOSA 7	608133 C1842475 MESH:C564284 MONDO:0011974	ROM1	Unknown	20300562 24618324 30630813 32036094 32716032 8202715	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 76	C4310704	TSPAN1	Unknown	—	Disgenet	—
RETINITIS PIGMENTOSA 91	C5561925	ABCA4	Unknown	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more

«‹123 4…7 ›»

Retinitis pigmentosa

Bookmark This Disease