Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
RETINITIS PIGMENTOSA	791 C0035334 MONDO:0019200	SEMA4A	Causal	20301590	Disgenet, GWAS catalog, Orphanet	Axon guidance Other semaphorin interactions
		SLC24A1	Causal	—	Disgenet	Phototransduction Sodium/Calcium exchangers Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
		SNRNP200	Causal	20301590	Disgenet, GWAS catalog, Orphanet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
		TOPORS	Causal	20301590	Disgenet, GWAS catalog, Orphanet	SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of immune response proteins
		TTLL5	Causal	—	Disgenet	Carboxyterminal post-translational modifications of tubulin
		USH1C	Causal	—	Disgenet	—
		VPS13B	Causal	—	Disgenet	—
		VSX2	Causal	—	Disgenet	—
RETINITIS PIGMENTOSA 23	300424 MONDO:0010320 OMIM:300424	OFD1	Causal	—	CTD, ClinVar, GenCC, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
RETINITIS PIGMENTOSA 31	609923 C1835923 MESH:C563685 MONDO:0012367	TOPORS	Causal	17924349	CTD, ClinVar, Disgenet, GenCC, HPO	SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of immune response proteins
RETINITIS PIGMENTOSA 32	609913 C1835927 MESH:C563689 MONDO:0012363	CLCC1	Causal	30157172	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 33	610359 C1835895 MESH:C563676 MONDO:0012477	SNRNP200	Causal	19878916 28045043	CTD, ClinVar, Disgenet, GenCC, HPO	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
RETINITIS PIGMENTOSA 35	610282 C1853214 MESH:C565206 MONDO:0012463	SEMA4A	Causal	16199541 28805479	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Axon guidance Other semaphorin interactions
RETINITIS PIGMENTOSA 46	612572 C2675496 MESH:C567249 MONDO:0012943	IDH3B	Causal	18806796	CTD, ClinVar, Disgenet, HPO	Citrate cycle (TCA cycle) Metabolic pathways Carbon metabolism +3 more
RETINITIS PIGMENTOSA 51	613464 C3150715 MONDO:0013274 OMIM:613464	TTC8	Causal	20451172 26195043 25776555	CTD, ClinVar, Disgenet, GWAS catalog, HPO	BBSome-mediated cargo-targeting to cilium
RETINITIS PIGMENTOSA 58	613617 C3150879 MONDO:0013328 OMIM:613617	ZNF513	Causal	20227676 20797688 276064 29320387	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 67	615565 C3809954 MONDO:0014256 OMIM:615565	NEK2	Causal	24043777	CTD, ClinVar, Disgenet, GenCC, HPO	APC-Cdc20 mediated degradation of Nek2A Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes +5 more
RETINITIS PIGMENTOSA 68	615725 C3810380 MONDO:0014323 OMIM:615725	SLC7A14	Causal	24670872	CTD, ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 70	615922 C4014681 MONDO:0014400 OMIM:615922	PRPF4	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Spliceosome mRNA Splicing - Major Pathway
RETINITIS PIGMENTOSA 73	616544 C4225287 MONDO:0014687 OMIM:616544	HGSNAT	Causal	1.59069E+15 25859010 27608171 28041643 28981474	CTD, ClinVar, Disgenet, HPO	Glycosaminoglycan degradation Metabolic pathways Lysosome +3 more
RETINITIS PIGMENTOSA 76	617123 C4310704 MONDO:0014929 OMIM:617123	POMGNT1	Causal	12588800 21447391 26908613 27391550	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Mannose type O-glycan biosynthesis Metabolic pathways Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 +1 more
RETINITIS PIGMENTOSA 78	617433 C4479481 MONDO:0044314 OMIM:617433	ARHGEF18	Causal	28132693	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Tight junction NRAGE signals death through JNK Rho GTPase cycle +2 more
RETINITIS PIGMENTOSA 81	617871 C4693443 MONDO:0036482	IFT43	Causal	28973684	ClinVar, Disgenet, HPO	Intraflagellar transport
RETINITIS PIGMENTOSA 85	618345 C5193041 MONDO:0032689	AHR	Causal	24106308 28851966 29726989 31009037	ClinVar, Disgenet, GWAS catalog, HPO	Th17 cell differentiation Cushing syndrome Chemical carcinogenesis - receptor activation +6 more
RETINITIS PIGMENTOSA 89	618955 C5394552 MONDO:0030071	KIF3B	Causal	32386558	ClinVar, Disgenet, GWAS catalog, HPO	Motor proteins MHC class II antigen presentation Intraflagellar transport +2 more
RETINITIS PIGMENTOSA 9	180104 C1867300 MESH:C566716 MONDO:0008378	RP9	Causal	16799052 12032732	CTD, ClinGen, ClinVar, Disgenet, HPO	Spliceosome
RETINITIS PIGMENTOSA 90	619007 C5436588 MONDO:0033563	IDH3A	Causal	23876293 28412069 30058936 30478029 31012789	ClinVar, Disgenet, HPO	Citrate cycle (TCA cycle) Metabolic pathways Carbon metabolism +3 more
RETINITIS PIGMENTOSA 92	619614 C5562022 MONDO:0030619	HKDC1	Causal	30085091	ClinVar, Disgenet, HPO	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +12 more
RETINITIS PIGMENTOSA 93	619845 C5676970 MONDO:0030797	CC2D2A	Causal	15563877 15580021 26092869 30267408	ClinVar, Disgenet, HPO	Anchoring of the basal body to the plasma membrane
RETINITIS PIGMENTOSA 95	620102 C5774244 MONDO:0859308	RAX2	Causal	30377383	ClinVar, Disgenet, HPO	—
RETINITIS PIGMENTOSA 98	620996 MONDO:0975840	TMEM216	Causal	—	ClinVar, HPO	Anchoring of the basal body to the plasma membrane

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Retinitis pigmentosa

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