Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
RETINITIS PIGMENTOSA	C0035334 268000 791 MESH:D012174 MONDO:0019200PS268000	CHM	Causal	—	Disgenet	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain RAB geranylgeranylation RAB GEFs exchange GTP for GDP on RABs
		CLN3	Causal	—	Disgenet	Lysosome
		CLRN1	Causal	20301590	CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	—
		CNGA1	Causal	20301590 7479749	CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	cGMP-PKG signaling pathway cAMP signaling pathway Phototransduction +2 more
		CNGB3	Causal	—	Disgenet	cAMP signaling pathway
		COL18A1	Causal	—	Disgenet	Protein digestion and absorption Collagen degradation Activation of Matrix Metalloproteinases +5 more
		CRYGS	Causal	—	Disgenet	—
		CWC27	Causal	—	Disgenet	mRNA Splicing - Major Pathway
		CYP4V2	Causal	—	Disgenet	Endogenous sterols The canonical retinoid cycle in rods (twilight vision)
		DHDDS	Causal	20301590	Disgenet, GWAS catalog, Orphanet	Terpenoid backbone biosynthesis Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59
		FLVCR1	Causal	—	Disgenet	Heme biosynthesis Iron uptake and transport
		GLDC	Causal	—	Disgenet	Glycine, serine and threonine metabolism Glyoxylate and dicarboxylate metabolism One carbon pool by folate +4 more
		GNAT1	Causal	—	Disgenet	Phototransduction PLC beta mediated events G-protein activation +4 more
		GUCY2D	Causal	16272259	CTD, Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
		HK1	Causal	—	Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +14 more
		IFT140	Causal	26216056	Disgenet, Orphanet	Hedgehog 'off' state Intraflagellar transport
		IFT172	Causal	25168386	CTD, Disgenet, Orphanet	Hedgehog 'off' state Intraflagellar transport
		IMPDH1	Causal	11875050 16384941 20301590	CTD, Disgenet, Orphanet	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +3 more
		IMPG1	Causal	32817297	CTD, Disgenet, Orphanet	—
		IQCB1	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		KCNJ13	Causal	—	Disgenet	Protein digestion and absorption
		KIAA1549	Causal	30120214	Disgenet, GWAS catalog, Orphanet	Signaling by BRAF and RAF fusions
		KIF11	Causal	—	Disgenet	Motor proteins MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic +1 more
		KIZ	Causal	24680887	Disgenet, GWAS catalog, Orphanet	—
		KLHL7	Causal	20301590	CTD, Disgenet, Orphanet	—
		LARGE1	Causal	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways Defective LARGE causes MDDGA6 and MDDGB6 +1 more
		LCA5	Causal	—	Disgenet	—
		MAK	Causal	20301590	Disgenet, HPO, Orphanet	—
		MFSD8	Causal	—	Disgenet	Lysosome
		MYO7A	Causal	—	Disgenet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		NPHP4	Causal	—	Disgenet	Signaling by Hippo Anchoring of the basal body to the plasma membrane
		NRL	Causal	10192380 12796249 20301590	CTD, Disgenet, GWAS catalog, Orphanet	—
		P3H2	Causal	—	Disgenet	Collagen biosynthesis and modifying enzymes
		PANK2	Causal	—	Disgenet	Pantothenate and CoA biosynthesis Metabolic pathways Biosynthesis of cofactors +1 more
		PDE6G	Causal	20301590	CTD, ClinVar, Disgenet, HPO, Orphanet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PHYH	Causal	—	Disgenet	Peroxisome Alpha-oxidation of phytanate Peroxisomal protein import
		PPT1	Causal	—	Disgenet	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		PRCD	Causal	20301590	Disgenet, GWAS catalog, Orphanet	—
		PRPF3	Causal	20301590	Disgenet, GenCC, Orphanet	Spliceosome mRNA Splicing - Major Pathway
		PRPF31	Causal	20301590	CTD, Disgenet, Orphanet	Spliceosome mRNA Splicing - Major Pathway
		PRPF6	Causal	20301590	Disgenet, GWAS catalog, Orphanet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
		PRPH2	Causal	20301590	Disgenet, GWAS catalog, Orphanet	—
		RCBTB1	Causal	—	Disgenet	—
		RDH12	Causal	16968212 20301590	CTD, Disgenet, GWAS catalog, Orphanet	Retinol metabolism Metabolic pathways Biosynthesis of cofactors +2 more
		RGR	Causal	10581022 16968212 20301590	CTD, Disgenet, GWAS catalog, Orphanet	G alpha (i) signalling events Opsins
		RP2	Causal	—	Disgenet, GenCC, Orphanet	Trafficking of myristoylated proteins to the cilium
		RPGR	Causal	10094550 12920075 17480003	CTD, Disgenet, GenCC, Orphanet	—
		RPGRIP1	Causal	16272259	CTD, Disgenet	—
		SAG	Causal	20301590 9565049	CTD, Disgenet, Orphanet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		SCAPER	Causal	28794130	Disgenet, Orphanet	—
RETINITIS PIGMENTOSA 10	180105 C1867299 MESH:C566715 MONDO:0008379	IMPDH1	Causal	16214101 25439607	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +3 more
RETINITIS PIGMENTOSA 11	600138 C1838601 MESH:C563991 MONDO:0010828	PRPF31	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Spliceosome mRNA Splicing - Major Pathway
RETINITIS PIGMENTOSA 18	601414 C1832378 MESH:C563320 MONDO:0011075	PRPF3	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Spliceosome mRNA Splicing - Major Pathway
RETINITIS PIGMENTOSA 2	312600 C2681923 MESH:C567523 MONDO:0010723	RP2	Causal	9697692 10053026 11462235 10090907	CTD, ClinVar, Disgenet, GenCC, HPO	Trafficking of myristoylated proteins to the cilium
RETINITIS PIGMENTOSA 27	613750 C1834329 MESH:C563526 MONDO:0013402	NRL	Causal	10192380 11039579 11879142 11385710 28106895	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 3	C1845667 300029 MESH:C564520 MONDO:0010227	RP2	Causal	10053026 10090907 11462235 9697692	Disgenet	Trafficking of myristoylated proteins to the cilium
RETINITIS PIGMENTOSA 3	C1845667 300029 MESH:C564520 MONDO:0010227	RPGR	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	—
RETINITIS PIGMENTOSA 36	610599 C1864621 MESH:C566431 MONDO:0012523	PRCD	Causal	16938425 23805042 20507925	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 42	612943 C2751986 MESH:C567854 MONDO:0013052	KLHL7	Causal	22084217 19520207	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 47	613758 C3151061 MONDO:0013407 OMIM:613758	SAG	Causal	9565049 28549094 31257036	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
RETINITIS PIGMENTOSA 49	613756 C3151059 MONDO:0013405 OMIM:613756	CNGA1	Causal	7479749 15570217	CTD, ClinVar, Disgenet, GWAS catalog, HPO	cGMP-PKG signaling pathway cAMP signaling pathway Phototransduction +2 more
RETINITIS PIGMENTOSA 53	C3150208	RDH12	Causal	31505163	Disgenet	Retinol metabolism Metabolic pathways Biosynthesis of cofactors +2 more
RETINITIS PIGMENTOSA 57	613582 C3150821 MONDO:0013315 OMIM:613582	PDE6G	Causal	20655036	CTD, ClinVar, Disgenet, HPO	Purine metabolism Metabolic pathways Phototransduction +3 more
RETINITIS PIGMENTOSA 59	613861 C3151227 MONDO:0013468 OMIM:613861	DHDDS	Causal	21295282 25255364 21295283	CTD, ClinVar, Disgenet, HPO	Terpenoid backbone biosynthesis Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59
RETINITIS PIGMENTOSA 6	C1839368	RPGR	Causal	10094550 10932196 10970770 11857109 11875055 11950860 12920075 15914600 16055928 16387007 17480003 23150612 8673101	Disgenet	—
RETINITIS PIGMENTOSA 61	614180 C3280041 MONDO:0013610 OMIM:614180	CLRN1	Causal	21310491	CTD, ClinGen, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 62	614181 C3280042 MONDO:0013611 OMIM:614181	MAK	Causal	26894652 21835304 22110072 21825139 21148103 25385675 25255364	CTD, ClinVar, Disgenet, GenCC, HPO	—
RETINITIS PIGMENTOSA 69	615780 C4014312 MONDO:0014345 OMIM:615780	KIZ	Causal	18423593 24680887 26835369 28837078 29057815 32052671	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 7	608133 C1842475 MESH:C564284 MONDO:0011974	PRPH2	Causal	23105016	CTD, ClinVar, Disgenet, GenCC, HPO	—
RETINITIS PIGMENTOSA 71	616394 C4225342 MONDO:0014618 OMIM:616394	IFT172	Causal	25168386 28559085 31054281	CTD, ClinVar, Disgenet, HPO	Hedgehog 'off' state Intraflagellar transport
RETINITIS PIGMENTOSA 79	617460 C4479526 MONDO:0044320 OMIM:617460	HK1	Causal	25190649 25316723 26427411 28765615	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +14 more
RETINITIS PIGMENTOSA 80	617781 C4540439 MONDO:0054708	IFT140	Causal	26216056 26968735	ClinVar, Disgenet, HPO	Hedgehog 'off' state Intraflagellar transport
RETINITIS PIGMENTOSA 86	618613 C5231428 MONDO:0032834	KIAA1549	Causal	23105016 24938718 28512305 30120214 31785789 32531858	ClinGen, ClinVar, Disgenet, HPO, Orphanet	Signaling by BRAF and RAF fusions
RETINITIS PIGMENTOSA 96	620228 C5774303 MONDO:0859367	SAG	Causal	119608 28549094 29305604 9501883 9565049	ClinVar, Disgenet, GWAS catalog, HPO	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade

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Retinitis pigmentosa

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