Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA	C0339525	SNRNP200	Unknown	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA	C0339526	ADGRA3	Unknown	—	Disgenet	—
		EMC1	Unknown	—	Disgenet	—
		PHF3	Unknown	—	Disgenet	—
RETINITIS PIGMENTOSA	C0035334 MONDO:0019200 791 MESH:D012174 MONDO_0019200	ADAM9	Unknown	—	Disgenet	Efferocytosis
		ADAMTS18	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADGRA3	Unknown	23105016	Disgenet, GWAS catalog	—
		ADIPOR1	Unknown	27655171	Disgenet, GWAS catalog	Hormone signaling AMPK signaling pathway Longevity regulating pathway +4 more
		AHR	Unknown	29726989	Disgenet, GWAS catalog, Orphanet	Th17 cell differentiation Cushing syndrome Chemical carcinogenesis - receptor activation +6 more
		ARHGEF18	Unknown	28132693	Disgenet, GWAS catalog, Orphanet	Tight junction NRAGE signals death through JNK Rho GTPase cycle +2 more
		ARL3	Unknown	26964041 33598457 34485303	Disgenet, GWAS catalog, Orphanet	Trafficking of myristoylated proteins to the cilium
		ATF6	Unknown	26029869	CTD, Disgenet	Protein processing in endoplasmic reticulum Alzheimer disease Parkinson disease +5 more
		ATP5ME	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +2 more
		BBS7	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		CA4	Unknown	15563508 17652713 20450258 15090652 19211803 7581389 20301590	Disgenet, Orphanet	Nitrogen metabolism Metabolic pathways Proximal tubule bicarbonate reclamation +3 more
		CACNA2D4	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		CAT	Unknown	—	Disgenet	Tryptophan metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways +11 more
		CC2D2A	Unknown	30267408	Disgenet, Orphanet	Anchoring of the basal body to the plasma membrane
		CEP250	Unknown	30998843	Disgenet, GWAS catalog	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CEP78	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CLCC1	Unknown	30157172	Disgenet	—
		CNNM4	Unknown	—	Disgenet	—
		COL2A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		COQ8B	Unknown	39226897	Disgenet, Orphanet	—
		CRB2	Unknown	30593785	Disgenet, GWAS catalog	Hippo signaling pathway
		CYGB	Unknown	—	Disgenet	eNOS activation Intracellular oxygen transport
		DHX32	Unknown	29320387	Disgenet, GWAS catalog	—
		DNAJC10	Unknown	34594039	GWAS catalog	Protein processing in endoplasmic reticulum
		DSCAML1	Unknown	29320387	Disgenet, GWAS catalog	DSCAM interactions
		EML3	Unknown	—	Disgenet	—
		EP300	Unknown	29320387	CTD, Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +66 more
		FDFT1	Unknown	29320387	Disgenet, GWAS catalog	Steroid biosynthesis Metabolic pathways Cholesterol biosynthesis +2 more
		FSCN2	Unknown	20301590	Disgenet, GWAS catalog, Orphanet	—
		FTH1	Unknown	—	Disgenet	Porphyrin metabolism Ferroptosis Necroptosis +4 more
		GDPD1	Unknown	33022222	Disgenet, Orphanet	Ether lipid metabolism Metabolic pathways
		GIGYF2	Unknown	—	Disgenet	—
		GPHN	Unknown	—	Disgenet	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors +2 more
		GPR179	Unknown	—	Disgenet	—
		GUCA1A	Unknown	—	Disgenet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		GUCA1ANB-GUCA1A	Unknown	—	Disgenet	Phototransduction
		GUCA1B	Unknown	15452722 20301590	CTD, Disgenet, Orphanet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		HGSNAT	Unknown	25859010	Disgenet, Orphanet	Glycosaminoglycan degradation Metabolic pathways Lysosome +3 more
		HKDC1	Unknown	30085091	Disgenet, GWAS catalog	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +12 more
		IDH3A	Unknown	28412069 30058936	Disgenet, Orphanet	Citrate cycle (TCA cycle) Metabolic pathways Carbon metabolism +3 more
		IDH3B	Unknown	18806796 20301590	CTD, Disgenet, GWAS catalog, Orphanet	Citrate cycle (TCA cycle) Metabolic pathways Carbon metabolism +3 more
		IDH3G	Unknown	—	Disgenet, GenCC	Citrate cycle (TCA cycle) Metabolic pathways Carbon metabolism +3 more
		IFT43	Unknown	28973684	Disgenet, Orphanet	Intraflagellar transport
		IFT81	Unknown	—	Disgenet	Intraflagellar transport
		IFT88	Unknown	29978320	Disgenet, HPO, Orphanet	Hedgehog 'off' state Intraflagellar transport Aggrephagy
		ITGA4	Unknown	34594039	Disgenet, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +16 more
		KRTCAP3	Unknown	—	Disgenet	—
		PHF3	Unknown	—	Disgenet	—
RETINITIS PIGMENTOSA 1	MESH:C538365 C0220701	ADAM9	Unknown	—	CTD	Efferocytosis
		ADAMTS18	Unknown	—	CTD	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADGRA3	Unknown	—	CTD	—
		ADIPOR1	Unknown	—	CTD	Hormone signaling AMPK signaling pathway Longevity regulating pathway +4 more
		AHR	Unknown	—	CTD	Th17 cell differentiation Cushing syndrome Chemical carcinogenesis - receptor activation +6 more
		ARHGEF18	Unknown	—	CTD, Disgenet	Tight junction NRAGE signals death through JNK Rho GTPase cycle +2 more
		ARL3	Unknown	—	CTD	Trafficking of myristoylated proteins to the cilium
		ATF6	Unknown	—	CTD, Disgenet	Protein processing in endoplasmic reticulum Alzheimer disease Parkinson disease +5 more
		BBS7	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		CA4	Unknown	—	CTD, Disgenet	Nitrogen metabolism Metabolic pathways Proximal tubule bicarbonate reclamation +3 more
		CACNA2D4	Unknown	—	CTD	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		CAT	Unknown	—	Disgenet	Tryptophan metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways +11 more
		CC2D2A	Unknown	—	CTD, Disgenet	Anchoring of the basal body to the plasma membrane
		CEP250	Unknown	—	CTD	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CEP78	Unknown	—	CTD	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CLCC1	Unknown	—	CTD	—
		CNNM4	Unknown	—	CTD	—
		COL2A1	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		EMC1	Unknown	—	CTD	—
		FSCN2	Unknown	—	CTD, Disgenet	—
		GDPD1	Unknown	—	CTD	Ether lipid metabolism Metabolic pathways
		GPR179	Unknown	—	CTD	—
		GUCA1A	Unknown	—	CTD	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		GUCA1B	Unknown	—	CTD, Disgenet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		HGSNAT	Unknown	—	CTD	Glycosaminoglycan degradation Metabolic pathways Lysosome +3 more
		HKDC1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +12 more
		IDH3A	Unknown	—	CTD	Citrate cycle (TCA cycle) Metabolic pathways Carbon metabolism +3 more
		IDH3B	Unknown	—	CTD, Disgenet	Citrate cycle (TCA cycle) Metabolic pathways Carbon metabolism +3 more
		IFT43	Unknown	—	CTD	Intraflagellar transport
		IFT81	Unknown	—	CTD	Intraflagellar transport
		SNRNP200	Unknown	—	CTD, Disgenet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
RETINITIS PIGMENTOSA 17	C1833245 MONDO:0010945	CA4	Unknown	15090652 15563508 17485676 17652713 19211803 20308551 20450258 20626030 25097241 30718709 33090715 7581389	Disgenet, Orphanet	Nitrogen metabolism Metabolic pathways Proximal tubule bicarbonate reclamation +3 more
RETINITIS PIGMENTOSA 25	C1864446	PHF3	Unknown	—	Disgenet	—
RETINITIS PIGMENTOSA 26	C1842127	ITGA4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +16 more
RETINITIS PIGMENTOSA 30	607921 C1842816 MESH:C564310 MONDO:0011935	FSCN2	Unknown	11527955 18450588	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
RETINITIS PIGMENTOSA 36	C1864621	CYGB	Unknown	—	Disgenet	eNOS activation Intracellular oxygen transport
RETINITIS PIGMENTOSA 40	C3151107	ATP5ME	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +2 more
RETINITIS PIGMENTOSA 48	613827 C3151190 MONDO:0013447 OMIM:613827	GUCA1B	Unknown	15452722 15505030 22025579 24938718 25445212 25698705	CTD, ClinGen, ClinVar, Disgenet, HPO	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
RETINITIS PIGMENTOSA 53	C3150208	GPHN	Unknown	—	Disgenet	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors +2 more
RETINITIS PIGMENTOSA 71	C4225342	KRTCAP3	Unknown	—	Disgenet	—
RETINITIS PIGMENTOSA 83	618173 C4748536 MONDO:0032577	ARL3	Unknown	16565502 25422369 26964041 30932721	ClinVar, Disgenet, GWAS catalog, HPO	Trafficking of myristoylated proteins to the cilium
RETINITIS PIGMENTOSA 99	301148	IDH3G	Unknown	—	ClinVar	Citrate cycle (TCA cycle) Metabolic pathways Carbon metabolism +3 more
RETINITIS PIGMENTOSA, CONCENTRIC	C2750789	FTH1	Unknown	—	Disgenet	Porphyrin metabolism Ferroptosis Necroptosis +4 more

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Retinitis pigmentosa

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