Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMAUROSIS CONGENITA OF LEBER, TYPE 1	C2931258 MESH:C536600	CRB1	Unknown	—	Disgenet	Hippo signaling pathway
		CRX	Unknown	—	Disgenet	—
		GUCY2D	Unknown	—	CTD, Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
		LCA5	Unknown	—	Disgenet	—
		LRAT	Unknown	—	Disgenet	Retinol metabolism Metabolic pathways Vitamin digestion and absorption +3 more
		PROM1	Unknown	—	Disgenet	Transcriptional misregulation in cancer
		RP1	Unknown	—	Disgenet	—
		RPGRIP1	Unknown	—	Disgenet	—
		TULP1	Unknown	—	Disgenet	—
AMAUROSIS CONGENITA OF LEBER, TYPE 2	C1859844 MESH:C536601	RPE65	Unknown	—	CTD, Disgenet	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
AMAUROSIS CONGENITA OF LEBER, TYPE 5	MESH:C536602	LCA5	Unknown	—	CTD	—
AMAUROSIS CONGENITA OF LEBER, TYPE 9	MESH:C536603	NMNAT1	Unknown	—	CTD	Nicotinate and nicotinamide metabolism Metabolic pathways Biosynthesis of cofactors +1 more
LEBER CONGENITAL AMAUROSIS	C0339527 65 MONDO:0018998 MESH:D057130	ABCA4	Causal	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		AHI1	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		AIPL1	Causal	20301475 25685757	Disgenet, GWAS catalog, Orphanet	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
		CDHR1	Causal	—	Disgenet	—
		CEP290	Causal	20301475 25685757	ClinGen, Disgenet, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CFAP410	Causal	—	Disgenet	—
		CLUAP1	Causal	26820066	Disgenet	Intraflagellar transport
		CNGB3	Causal	—	Disgenet	cAMP signaling pathway
		CRB1	Causal	11389483 20301475 25685757	CTD, Disgenet, GWAS catalog, Orphanet	Hippo signaling pathway
		CRX	Causal	20301475 25685757 9537410 9931337	CTD, Disgenet, GWAS catalog, Orphanet	—
		GRM6	Causal	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Glutamatergic synapse +2 more
		GUCY2D	Causal	20301475 25685757	CTD, Disgenet, Orphanet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
		INPP5E	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		IQCB1	Causal	20881296 21901789	ClinVar, Disgenet, Orphanet	Anchoring of the basal body to the plasma membrane
		KCNJ13	Causal	20301475 21763485 25685757	Disgenet, GWAS catalog, Orphanet	Protein digestion and absorption
		LCA5	Causal	17546029 25685757 20301475	Disgenet, GWAS catalog, Orphanet	—
		LRAT	Causal	17011878 25685757 20301475 19339306	CTD, Disgenet, Orphanet	Retinol metabolism Metabolic pathways Vitamin digestion and absorption +3 more
		NMNAT1	Causal	20301475 22842227 25685757 22842229 22842230 22842231	CTD, Disgenet, Orphanet	Nicotinate and nicotinamide metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		NR2E3	Causal	—	Disgenet	Nuclear Receptor transcription pathway
		OTX2	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
		RD3	Causal	17186464 25685757 20301475	Disgenet, GWAS catalog, Orphanet	—
		RDH12	Causal	15322982 25685757 20301475	CTD, Disgenet, Orphanet	Retinol metabolism Metabolic pathways Biosynthesis of cofactors +2 more
		RGS9	Causal	—	Disgenet	Phototransduction Cocaine addiction Inactivation, recovery and regulation of the phototransduction cascade +2 more
		RP2	Causal	—	Disgenet	Trafficking of myristoylated proteins to the cilium
		RPE65	Causal	19339306 9326927 9501220 20301475 25495949 25685757	CTD, Disgenet, GWAS catalog, Orphanet	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
		RPGRIP1	Causal	11283794 11528500 25685757 20301475	CTD, Disgenet, Orphanet	—
		RPGRIP1L	Causal	—	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		SPATA7	Causal	19268277 25685757 20301475	CTD, Disgenet, GWAS catalog, Orphanet	—
		TULP1	Causal	17962469 25685757 20301475	CTD, Disgenet, Orphanet	—
		USH2A	Causal	—	Disgenet	—
		WDR19	Causal	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
		ADAMTS18	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		CCT2	Unknown	27645772	Disgenet, GWAS catalog	Association of TriC/CCT with target proteins during biosynthesis BBSome-mediated cargo-targeting to cilium Neutrophil degranulation +1 more
		DTHD1	Unknown	—	Disgenet	—
		FSCN2	Unknown	—	Disgenet	—
		GDF6	Unknown	23307924 25685757	Disgenet, GWAS catalog, Orphanet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway
		GIGYF2	Unknown	—	Disgenet	—
		GPHN	Unknown	—	Disgenet	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors +2 more
		GUCA1B	Unknown	—	Disgenet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		IFT140	Unknown	26216056	ClinVar, Disgenet, Orphanet	Hedgehog 'off' state Intraflagellar transport
		IMPDH1	Unknown	16384941 25685757 20301475	CTD, Disgenet, Orphanet	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +3 more
		LRP5	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action +11 more
		MYO7A	Unknown	—	Disgenet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		TUBB4B	Unknown	35240325	Disgenet, Orphanet	Phagosome Gap junction Motor proteins +38 more
		USP45	Unknown	30573563	Disgenet, GWAS catalog, Orphanet	Polycomb repressive complex Formation of Incision Complex in GG-NER
LEBER CONGENITAL AMAUROSIS 1	204000 MONDO:0008764	GUCY2D	Causal	12325031 12623820 29061346 8944027	ClinVar, GenCC, HPO	Purine metabolism Metabolic pathways Olfactory transduction +2 more
LEBER CONGENITAL AMAUROSIS 10	611755 C1857821 MESH:C565720 MONDO:0012723	CEP290	Causal	16909394 17345604 20690115 28559085	CTD, ClinVar, Disgenet, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
LEBER CONGENITAL AMAUROSIS 11	613837 C1840284 MESH:C564140 MONDO:0013454	IMPDH1	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +3 more
LEBER CONGENITAL AMAUROSIS 12	610612 C1857743 MESH:C565697 MONDO:0012525	RD3	Causal	23308101 17186464 22531706	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
LEBER CONGENITAL AMAUROSIS 13	612712 C2675186 MESH:C567197 MONDO:0012990	RDH12	Causal	15258582 15322982 22065924 16269441 25526675	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Retinol metabolism Metabolic pathways Biosynthesis of cofactors +2 more
LEBER CONGENITAL AMAUROSIS 13	612712 C2675186 MESH:C567197 MONDO:0012990	GPHN	Unknown	—	Disgenet	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors +2 more
LEBER CONGENITAL AMAUROSIS 14	C2750063 613341 MESH:C567636 MONDO:0013231	ABCA4	Causal	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
LEBER CONGENITAL AMAUROSIS 14	C2750063 613341 MESH:C567636 MONDO:0013231	LRAT	Causal	11381255 17011878 18055821 22570351	CTD, ClinVar, Disgenet, GenCC, HPO	Retinol metabolism Metabolic pathways Vitamin digestion and absorption +3 more
LEBER CONGENITAL AMAUROSIS 15	613843 C3151206 MONDO:0013457 OMIM:613843	TULP1	Causal	10549638 15024725 17620573 18055821 18936139 24474277 25342276 26047050	CTD, ClinVar, Disgenet, HPO	—
LEBER CONGENITAL AMAUROSIS 16	614186 C3280062 MONDO:0013613 OMIM:614186	KCNJ13	Causal	21763485 25921210 27203561 25475713	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Protein digestion and absorption
LEBER CONGENITAL AMAUROSIS 16	614186 C3280062 MONDO:0013613 OMIM:614186	GIGYF2	Unknown	—	Disgenet	—
LEBER CONGENITAL AMAUROSIS 17	615360 C3715164 MONDO:0014145 OMIM:615360	GDF6	Causal	18425797 19129173 21070663 23307924	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway
LEBER CONGENITAL AMAUROSIS 19	618513 C5193139 MONDO:0032794	USP45	Causal	30573563	ClinVar, Disgenet, HPO	Polycomb repressive complex Formation of Incision Complex in GG-NER
LEBER CONGENITAL AMAUROSIS 2	204100 MONDO:0008765	RPE65	Causal	9326927 14962443 11095629 9501220 9326941 25383945 16518657 15565294 33952291 10937591 36004591 31925606 11786058 23878505	ClinVar, GWAS catalog, HPO	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
LEBER CONGENITAL AMAUROSIS 3	604232 C1858677 MESH:C565814 MONDO:0011415	SPATA7	Causal	19268277 20104588 9799089	CTD, ClinVar, Disgenet, GenCC, HPO	—
LEBER CONGENITAL AMAUROSIS 4	604393 C1858386 MESH:C565778 MONDO:0011458	AIPL1	Causal	10873396 10615133 26650897	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Cushing syndrome Chemical carcinogenesis - receptor activation
LEBER CONGENITAL AMAUROSIS 5	604537 C1858301 MONDO:0011473	LCA5	Causal	17546029 23946133 27067258	ClinVar, Disgenet, GenCC, HPO	—
LEBER CONGENITAL AMAUROSIS 6	613826 C1854260 MESH:C565327 MONDO:0013446	RPGRIP1	Causal	11528500 11283794	CTD, ClinVar, Disgenet, GenCC, HPO	—
LEBER CONGENITAL AMAUROSIS 7	613829 C3151192 MONDO:0013449 OMIM:613829	CRX	Causal	9390563 9931337 9537410 9427255 9792858 12208271 15531334 17320181 25270190	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
LEBER CONGENITAL AMAUROSIS 8	613835 C3151202 MONDO:0013453 OMIM:613835	CRB1	Causal	10508521 19140180 16543197 11231775 11389483	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Hippo signaling pathway
LEBER CONGENITAL AMAUROSIS 9	608553 C1837873 MONDO:0012056	NMNAT1	Causal	12734549 22842227 22842230 24830548 22842229 26464178 26316326 24940029	ClinVar, Disgenet, GWAS catalog, HPO	Nicotinate and nicotinamide metabolism Metabolic pathways Biosynthesis of cofactors +1 more
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS	617879 C4693498 MONDO:0060650	TUBB4B	Causal	29198720 34021019 35240325	ClinVar, Disgenet, HPO	Phagosome Gap junction Motor proteins +38 more

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Leber congenital amaurosis

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