Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
RETINITIS PIGMENTOSA 1	MESH:C538365 C0220701	ABCB6	Unknown	—	CTD	ABC transporters Mitochondrial ABC transporters Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)
		ABCC6	Unknown	—	CTD	ABC transporters ABC-family proteins mediated transport Defective ABCC6 causes pseudoxanthoma elasticum (PXE)
		ABHD12	Unknown	24697911 20797687	CTD	Arachidonate production from DAG
		ACBD5	Unknown	—	CTD	Peroxisomal lipid metabolism Class I peroxisomal membrane protein import
		ACO2	Unknown	—	CTD	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		ADGRV1	Unknown	—	CTD	—
		AFG3L2	Unknown	—	CTD	Spinocerebellar ataxia Processing of SMDT1
		AGBL5	Unknown	—	CTD	—
		AHI1	Unknown	—	CTD	Anchoring of the basal body to the plasma membrane
		AIPL1	Unknown	—	CTD, Disgenet	Cushing syndrome Chemical carcinogenesis - receptor activation
		ALMS1	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
		ALPK1	Unknown	—	CTD	Alpha-protein kinase 1 signaling pathway
		AMACR	Unknown	23286897 10655068 15249642 11861706 21686617 20821052	CTD	Primary bile acid biosynthesis Metabolic pathways Peroxisome +4 more
		ARL2BP	Unknown	—	CTD	Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
		ARL6	Unknown	—	CTD, Disgenet	BBSome-mediated cargo-targeting to cilium
		ARR3	Unknown	—	CTD	—
		ARSG	Unknown	—	CTD	Lysosome Glycosphingolipid metabolism The activation of arylsulfatases
		ASRGL1	Unknown	—	CTD	Alanine, aspartate and glutamate metabolism Metabolic pathways Phenylalanine metabolism
		ATXN7	Unknown	—	CTD	Ub-specific processing proteases
		BBIP1	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		BBS1	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		BBS10	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		BBS12	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		BBS2	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		BBS4	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		BBS5	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		BBS9	Unknown	—	CTD	BBSome-mediated cargo-targeting to cilium
		BCOR	Unknown	—	CTD	Polycomb repressive complex
		BEST1	Unknown	—	CTD	Stimuli-sensing channels
		BMP4	Unknown	—	CTD	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +8 more
		C1QTNF5	Unknown	—	CTD	—
		CABP4	Unknown	—	CTD	—
		CACNA1F	Unknown	—	CTD	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		CAPN5	Unknown	—	CTD	Degradation of the extracellular matrix
		CCT2	Unknown	—	CTD	Association of TriC/CCT with target proteins during biosynthesis BBSome-mediated cargo-targeting to cilium Neutrophil degranulation +1 more
		CDH23	Unknown	—	CTD	—
		CDH3	Unknown	—	CTD	Cell adhesion molecules Adherens junctions interactions
		CDHR1	Unknown	—	CTD	—
		CEP164	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
		CEP19	Unknown	—	CTD	—
		CEP290	Unknown	—	CTD	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CEP41	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
		CERKL	Unknown	—	CTD, Disgenet	—
		CFAP410	Unknown	—	CTD	—
		CFAP418	Unknown	—	CTD, Disgenet	—
		CFH	Unknown	—	CTD	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CHM	Unknown	—	CTD	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
		CIB2	Unknown	—	CTD	—
		CLN3	Unknown	—	CTD	Lysosome
		CLRN1	Unknown	—	CTD, Disgenet	—
RETINITIS PIGMENTOSA, CONCENTRIC	C2750789	BEST1	Unknown	19853238	Disgenet	Stimuli-sensing channels
RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED	C2751763	AIPL1	Unknown	—	Disgenet	Cushing syndrome Chemical carcinogenesis - receptor activation

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Retinitis pigmentosa

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