Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA	C0339525	CRX	Causal	—	Disgenet	—
AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA	C0339525	PRPF8	Causal	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA	C0339526	ABCA4	Causal	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		AGBL5	Causal	—	Disgenet	—
		ARL2BP	Causal	—	Disgenet	Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
		ARL6	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS2	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		CERKL	Causal	—	Disgenet	—
		CFAP418	Causal	—	Disgenet	—
		CNGB1	Causal	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Olfactory transduction +4 more
		CRB1	Causal	—	Disgenet	Hippo signaling pathway
		DHX38	Causal	—	Disgenet	Spliceosome Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway +2 more
		DYNC2H1	Causal	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +3 more
		EYS	Causal	—	Disgenet	—
		FAM161A	Causal	—	Disgenet	—
		IMPG2	Causal	—	Disgenet	—
		LRAT	Causal	—	Disgenet	Retinol metabolism Metabolic pathways Vitamin digestion and absorption +3 more
		MERTK	Causal	—	Disgenet	Efferocytosis Cell surface interactions at the vascular wall
		NR2E3	Causal	—	Disgenet	Nuclear Receptor transcription pathway
		PCARE	Causal	—	Disgenet	—
		PDE6A	Causal	—	Disgenet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PDE6B	Causal	—	Disgenet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PROM1	Causal	—	Disgenet	Transcriptional misregulation in cancer
		RBP3	Causal	—	Disgenet	The retinoid cycle in cones (daylight vision) The canonical retinoid cycle in rods (twilight vision)
		REEP6	Causal	—	Disgenet	Olfactory Signaling Pathway
		RHO	Causal	—	Disgenet	Phototransduction The canonical retinoid cycle in rods (twilight vision) Activation of the phototransduction cascade +4 more
		RLBP1	Causal	—	Disgenet	The retinoid cycle in cones (daylight vision) Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision)
		RP1	Causal	—	Disgenet	—
		RP1L1	Causal	—	Disgenet	—
		RPE65	Causal	—	Disgenet	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
		SPATA7	Causal	—	Disgenet	—
		TULP1	Causal	—	Disgenet	—
		USH2A	Causal	—	Disgenet	—
		ZNF408	Causal	—	Disgenet	—
RETINITIS PIGMENTOSA	791 C0035334 MESH:D012174 MONDO:0019200 268000PS268000MONDO_0019200	ABCA4	Causal	16968212 20301590	CTD, Disgenet, GWAS catalog, Orphanet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		ADGRV1	Causal	—	Disgenet	—
		AGBL5	Causal	26720455	Disgenet, GWAS catalog, Orphanet	—
		AHI1	Causal	28442540	Disgenet, GenCC, Orphanet	Anchoring of the basal body to the plasma membrane
		AIPL1	Causal	16272259	CTD, ClinVar, Disgenet, HPO	Cushing syndrome Chemical carcinogenesis - receptor activation
		ALMS1	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		ARL2BP	Causal	23849777	Disgenet, GenCC, Orphanet	Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
		ARL6	Causal	20301590	CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS1	Causal	33910932	Disgenet, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS10	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS12	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS2	Causal	25541840	Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS4	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS9	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BEST1	Causal	19853238 20301590	Disgenet, Orphanet	Stimuli-sensing channels
		CACNA1F	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		CDH23	Causal	—	Disgenet	—
		CDH3	Causal	—	Disgenet	Cell adhesion molecules Adherens junctions interactions
		CDHR1	Causal	20087419	Disgenet, GWAS catalog, Orphanet	—
		CEP290	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CERKL	Causal	20301590	Disgenet, GWAS catalog, Orphanet	—
		CFAP410	Causal	—	Disgenet	—
		CFAP418	Causal	20301590 22177090	CTD, ClinVar, Disgenet, HPO, Orphanet	—
		CNGB1	Causal	11379879 20301590	CTD, Disgenet, GWAS catalog, Orphanet	cGMP-PKG signaling pathway cAMP signaling pathway Olfactory transduction +4 more
		CRB1	Causal	10508521 11389483 16272259 20301590	CTD, Disgenet, GWAS catalog, Orphanet	Hippo signaling pathway
		CRX	Causal	20301590	CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	—
		DHX38	Causal	24737827 30208423	CTD, Disgenet, GWAS catalog, Orphanet	Spliceosome Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway +2 more
		EYS	Causal	18836446 20237254 18976725 27375351 24652164 21519034 20537394 29159838 20301590 34594039	CTD, Disgenet, GWAS catalog, Orphanet	—
		FAM161A	Causal	20301590	Disgenet, GWAS catalog, Orphanet	—
		IMPG2	Causal	20301590	CTD, Disgenet, Orphanet	—
		LRAT	Causal	18055821 20301590	CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet	Retinol metabolism Metabolic pathways Vitamin digestion and absorption +3 more
		MERTK	Causal	11062461 20301590	CTD, Disgenet, GWAS catalog, Orphanet	Efferocytosis Cell surface interactions at the vascular wall
		NR2E3	Causal	20301590	Disgenet, GWAS catalog, Orphanet	Nuclear Receptor transcription pathway
		PCARE	Causal	20301590	Disgenet, GWAS catalog, Orphanet	—
		PDE6A	Causal	20301590 21039428 27551530 7493036	CTD, Disgenet, Orphanet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PDE6B	Causal	20301590 8394174	CTD, Disgenet, GenCC, Orphanet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PROM1	Causal	20301590	Disgenet, GenCC, Orphanet	Transcriptional misregulation in cancer
		PRPF8	Causal	20301590	CTD, Disgenet, Orphanet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
		RBP3	Causal	19074801 20301590 23486466	CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	The retinoid cycle in cones (daylight vision) The canonical retinoid cycle in rods (twilight vision)
		REEP6	Causal	27889058 28369466 29120066	CTD, Disgenet, Orphanet	Olfactory Signaling Pathway
		RHO	Causal	16737970 18273801 19206210 2137202 2215617 28715844 9020854 9391065 20301590	CTD, Disgenet, GWAS catalog, Orphanet	Phototransduction The canonical retinoid cycle in rods (twilight vision) Activation of the phototransduction cascade +4 more
		RLBP1	Causal	20301590	Disgenet, GWAS catalog, Orphanet	The retinoid cycle in cones (daylight vision) Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision)
		RP1	Causal	20301590	CTD, Disgenet, Orphanet	—
		RPE65	Causal	16272259 16968212 9501220 20301590 9326941 20811047 9801879 11786058	CTD, Disgenet, GWAS catalog, Orphanet	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
		SPATA7	Causal	19268277 20301590	CTD, Disgenet, GWAS catalog, Orphanet	—
		TULP1	Causal	20301590	Disgenet, GWAS catalog, Orphanet	—
		USH2A	Causal	10775529 15025721 9624053 20301590	CTD, Disgenet, Orphanet	—
RETINITIS PIGMENTOSA 1	180100 C0220701 MESH:C538365 MONDO:0008377	RP1	Causal	10391211 10484783 12882812 14507858 16597330 25698705 29847639	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 12	600105 C1838647 MESH:C563999 MONDO:0010818	CRB1	Causal	11231775 10508521 11389483 28341475	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Hippo signaling pathway
RETINITIS PIGMENTOSA 13	600059 C1838702 MESH:C564008 MONDO:0010806	PRPF8	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
RETINITIS PIGMENTOSA 14	600132 C1838603 MESH:C563992 MONDO:0010827	TULP1	Causal	9462750 9462751 9521870 17962469 17620573 10440267	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 19	601718 C1866422 MESH:C566637 MONDO:0011137	ABCA4	Causal	18332312 20301590 24938718	CTD, ClinVar, Disgenet, GWAS catalog, HPO	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
RETINITIS PIGMENTOSA 20	613794 C3151086 MESH:C566718 MONDO:0013425	RPE65	Causal	16754667 19431183 25356976 25752820 29068479 9326941 9501220 9843205	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
RETINITIS PIGMENTOSA 25	602772 C1864446 MESH:C566425 MONDO:0011272	EYS	Causal	18836446 18976725 20237254 20537394 21519034 24652164 27375351 29159838	CTD, ClinVar, Disgenet, GenCC, HPO	—
RETINITIS PIGMENTOSA 26	608380 C1842127 MESH:C564249 MONDO:0012024	CERKL	Causal	14681825 24043777 18055789 18515597 18978954 27874104 24547929 29068140	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 28	606068 C1419614 MONDO:0011630 OMIM:606068	FAM161A	Causal	10507729 20705278 20705279 26574802	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 37	611131 C1970163 MESH:C567005 MONDO:0012625	NR2E3	Causal	11071390 17564971 19006237 17982421 18294254	CTD, ClinVar, Disgenet, HPO	Nuclear Receptor transcription pathway
RETINITIS PIGMENTOSA 38	613862 C3151228 MONDO:0013469 OMIM:613862	MERTK	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Efferocytosis Cell surface interactions at the vascular wall
RETINITIS PIGMENTOSA 39	613809 C3151138 MONDO:0013436 OMIM:613809	USH2A	Causal	12525556 20301590 20507924 25472526 25649381 26667666	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 4	613731 C3151001 MESH:C566706 MONDO:0013395	RHO	Causal	1303237 19960070 21174529 21217109 26887858 31319082 32423767 7987385	CTD, ClinVar, Disgenet, GenCC, HPO	Phototransduction The canonical retinoid cycle in rods (twilight vision) Activation of the phototransduction cascade +4 more
RETINITIS PIGMENTOSA 40	613801 C3151107 MONDO:0013429 OMIM:613801	PDE6B	Causal	35075486	CTD, ClinVar, Disgenet, GenCC, HPO	Purine metabolism Metabolic pathways Phototransduction +3 more
RETINITIS PIGMENTOSA 41	612095 C2677516 MESH:C567422 MONDO:0012796	PROM1	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Transcriptional misregulation in cancer
RETINITIS PIGMENTOSA 43	613810 C3151139 MONDO:0013437 OMIM:613810	PDE6A	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Purine metabolism Metabolic pathways Phototransduction +3 more
RETINITIS PIGMENTOSA 45	613767 C3151066 MONDO:0013413 OMIM:613767	CNGB1	Causal	28056120 15557452 11379879 29800053	CTD, ClinVar, Disgenet, GWAS catalog, HPO	cGMP-PKG signaling pathway cAMP signaling pathway Olfactory transduction +4 more
RETINITIS PIGMENTOSA 50	613194 MONDO:0013175 OMIM:613194	BEST1	Causal	19853238 21330666 24560797 25999674 26716959 27375279 28512305 28559085 29641573 29844330 29847639 31759503 33512609 33946315 613194	CTD, ClinVar, GWAS catalog, HPO	Stimuli-sensing channels
RETINITIS PIGMENTOSA 54	613428 C3150691 MONDO:0013263 OMIM:613428	PCARE	Causal	20398884 20398886 27029556 24780881	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 55	613575 C3150808 MONDO:0013312 OMIM:613575	ARL6	Causal	28130426 19956407 31736247	CTD, ClinVar, Disgenet, GWAS catalog, HPO	BBSome-mediated cargo-targeting to cilium
RETINITIS PIGMENTOSA 56	613581 C3150819 MONDO:0013314 OMIM:613581	IMPG2	Causal	20673862 31264916 24876279	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 64	C3281046	CFAP418	Causal	—	Disgenet	—
RETINITIS PIGMENTOSA 65	C3552852 MONDO:0800352	CDHR1	Causal	20087419 20805371 31387115 33964272 35627310	ClinGen, Disgenet, GWAS catalog	—
RETINITIS PIGMENTOSA 66	615233 C3715216 MONDO:0014093 OMIM:615233	RBP3	Causal	19074801 23105016 23486466 25766589 26835369 9614228	CTD, ClinVar, Disgenet, HPO	The retinoid cycle in cones (daylight vision) The canonical retinoid cycle in rods (twilight vision)
RETINITIS PIGMENTOSA 72	616469 C4225315 MONDO:0014653 OMIM:616469	ZNF408	Causal	25882705 28095122	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 74	616562 C4225281 MONDO:0014692 OMIM:616562	BBS2	Causal	25541840	CTD, ClinVar, Disgenet, GWAS catalog, HPO	BBSome-mediated cargo-targeting to cilium
RETINITIS PIGMENTOSA 75	617023 C4310759 MONDO:0014871 OMIM:617023	AGBL5	Causal	26355662 263671875 26720455 27764769 27842159	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 77	617304 C4310626 MONDO:0015013 OMIM:617304	REEP6	Causal	24691551 27889058 28369466 28475715 29120066	CTD, ClinVar, Disgenet, HPO	Olfactory Signaling Pathway
RETINITIS PIGMENTOSA 84	618220 C4748725 MONDO:0032604	DHX38	Causal	24737827 30208423 30653986	ClinVar, Disgenet, HPO	Spliceosome Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway +2 more
RETINITIS PIGMENTOSA 88	618826 C5394208 MONDO:0032940	RP1L1	Causal	19657028 23281133 25324289 29343940 29785639 30025130	ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET	C5676889	SPATA7	Causal	—	Disgenet	—
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED	C2750065	LRAT	Causal	—	Disgenet	Retinol metabolism Metabolic pathways Vitamin digestion and absorption +3 more

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Retinitis pigmentosa

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