Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
RETINITIS PIGMENTOSA 1	MESH:C538365 C0220701	PANK2	Unknown	—	CTD	Pantothenate and CoA biosynthesis Metabolic pathways Biosynthesis of cofactors +1 more
		PAX2	Unknown	—	CTD	—
		PAX6	Unknown	—	CTD	Signaling pathways regulating pluripotency of stem cells Maturity onset diabetes of the young Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) +1 more
		PCARE	Unknown	—	CTD	—
		PCYT1A	Unknown	—	CTD	Phosphonate and phosphinate metabolism Glycerophospholipid metabolism Metabolic pathways +2 more
		PDE6A	Unknown	—	CTD, Disgenet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PDE6B	Unknown	—	CTD, Disgenet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PDE6C	Unknown	—	CTD	Purine metabolism Metabolic pathways
		PDE6G	Unknown	—	CTD, Disgenet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PDE6H	Unknown	—	CTD	Purine metabolism Metabolic pathways
		PDSS1	Unknown	—	CTD	Terpenoid backbone biosynthesis Ubiquinol biosynthesis
		PDZD7	Unknown	—	CTD	—
		PEX1	Unknown	—	CTD	Peroxisome Peroxisomal protein import
		PEX2	Unknown	—	CTD	Peroxisome E3 ubiquitin ligases ubiquitinate target proteins Peroxisomal protein import +1 more
		PEX6	Unknown	—	CTD	Peroxisome Peroxisomal protein import
		PEX7	Unknown	—	CTD	Peroxisome Peroxisomal protein import
		PGK1	Unknown	—	CTD	Glycolysis / Gluconeogenesis Metabolic pathways Carbon metabolism +5 more
		PHYH	Unknown	—	CTD	Peroxisome Alpha-oxidation of phytanate Peroxisomal protein import
		PLA2G5	Unknown	—	CTD	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +13 more
		PLK4	Unknown	—	CTD	FoxO signaling pathway Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes +5 more
		PNPLA6	Unknown	—	CTD	Glycerophospholipid metabolism Glycerophospholipid catabolism
		POC1B	Unknown	—	CTD	—
		PPT1	Unknown	—	CTD	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		PRCD	Unknown	—	CTD	—
		PRDM13	Unknown	—	CTD	—
		PRIMPOL	Unknown	—	CTD	—
		PROM1	Unknown	—	CTD	Transcriptional misregulation in cancer
		PRPF3	Unknown	—	CTD, Disgenet	Spliceosome mRNA Splicing - Major Pathway
		PRPF31	Unknown	—	CTD	Spliceosome mRNA Splicing - Major Pathway
		PRPF6	Unknown	—	CTD	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
		PRPF8	Unknown	—	CTD, Disgenet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
		PRPH2	Unknown	—	CTD, Disgenet	—
		PXDN	Unknown	—	CTD	Crosslinking of collagen fibrils
		RBP3	Unknown	—	CTD, Disgenet	The retinoid cycle in cones (daylight vision) The canonical retinoid cycle in rods (twilight vision)
		RBP4	Unknown	—	CTD	Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) Retinoid metabolism disease events +1 more
		RCBTB1	Unknown	—	CTD	—
		RD3	Unknown	—	CTD	—
		RDH11	Unknown	—	CTD	Retinol metabolism Metabolic pathways Biosynthesis of cofactors +3 more
		RDH12	Unknown	—	CTD, Disgenet	Retinol metabolism Metabolic pathways Biosynthesis of cofactors +2 more
		REEP6	Unknown	—	CTD	Olfactory Signaling Pathway
		RGR	Unknown	—	CTD, Disgenet	G alpha (i) signalling events Opsins
		RGS9	Unknown	—	CTD	Phototransduction Cocaine addiction Inactivation, recovery and regulation of the phototransduction cascade +2 more
		RGS9BP	Unknown	—	CTD	Inactivation, recovery and regulation of the phototransduction cascade
		RHO	Unknown	—	CTD, Disgenet	Phototransduction The canonical retinoid cycle in rods (twilight vision) Activation of the phototransduction cascade +4 more
		RIMS2	Unknown	—	CTD	Insulin secretion
		RLBP1	Unknown	—	CTD, Disgenet	The retinoid cycle in cones (daylight vision) Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision)
		RP2	Unknown	—	CTD, Disgenet	Trafficking of myristoylated proteins to the cilium
		RPE65	Unknown	—	CTD, Disgenet	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
		RPGR	Unknown	—	CTD, Disgenet	—
		RPGRIP1	Unknown	—	CTD, Disgenet	—
RETINITIS PIGMENTOSA 14	C1838603	PRPF8	Unknown	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
RETINITIS PIGMENTOSA 44	613769 C3151068 MONDO:0013414 OMIM:613769	RGR	Unknown	10581022 27748892	CTD, ClinVar, Disgenet, GenCC, HPO	G alpha (i) signalling events Opsins
RETINITIS PIGMENTOSA 60	613983 C3151434 MONDO:0013516 OMIM:613983	PRPF6	Unknown	21549338 22235333 25324289 25356976 28512305 29847639	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
RETINITIS PIGMENTOSA, LATE-ADULT ONSET	C1849400	PLA2G5	Unknown	—	Disgenet	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +13 more

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Retinitis pigmentosa

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