Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONE DYSTROPHY	C0730290 MONDO:0000455	ABCA4	Causal	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		ABHD12	Causal	—	Disgenet	Arachidonate production from DAG
		BBS5	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		CABP4	Causal	—	Disgenet	—
		CDHR1	Causal	—	Disgenet	—
		CERKL	Causal	—	Disgenet	—
		CFAP410	Causal	—	Disgenet	—
		CNGA3	Causal	—	Disgenet	cAMP signaling pathway Olfactory transduction
		CRB1	Causal	—	Disgenet	Hippo signaling pathway
		GNAT2	Causal	14609822	Disgenet, GWAS catalog	Phototransduction PLC beta mediated events G-protein activation +3 more
		GUCY2D	Causal	—	Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
		KCNV2	Causal	—	Disgenet	Voltage gated Potassium channels
		NMNAT1	Causal	—	Disgenet	Nicotinate and nicotinamide metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		PDE6C	Causal	19615668	Disgenet, GWAS catalog	Purine metabolism Metabolic pathways
		PITPNM3	Causal	—	Disgenet	Synthesis of PI
		PRPH2	Causal	—	Disgenet	—
		RAB28	Causal	—	Disgenet	—
		RPGR	Causal	—	Disgenet	—
		RPGRIP1	Causal	—	Disgenet	—
		SRD5A3	Causal	—	Disgenet	Steroid hormone biosynthesis N-Glycan biosynthesis Metabolic pathways +3 more
		WDR19	Causal	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
		CACNA2D4	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		CNGB3	Unknown	15161866	Disgenet, GWAS catalog	cAMP signaling pathway
		GUCA1A	Unknown	9425234 15735604	Disgenet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		RGR	Unknown	—	Disgenet	G alpha (i) signalling events Opsins
		RP1L1	Unknown	25692141	Disgenet	—
		SAG	Unknown	—	Disgenet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
CONE DYSTROPHY 3	602093 C1865869 MESH:C566579 MONDO:0011193	GUCA1A	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		CACNA2D4	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		CIMIP3	Unknown	—	Disgenet	—
		GUCA1ANB-GUCA1A	Unknown	—	Disgenet	Phototransduction
		GUCA1B	Unknown	—	Disgenet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		PDE6H	Unknown	—	Disgenet	Purine metabolism Metabolic pathways
		RHO	Unknown	—	Disgenet	Phototransduction The canonical retinoid cycle in rods (twilight vision) Activation of the phototransduction cascade +4 more
CONE DYSTROPHY 4	613093 C2751308 MESH:C567758 MONDO:0013129	PDE6C	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Purine metabolism Metabolic pathways
CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE	209932 MONDO:0012475	KCNV2	Causal	16909397 19952985 18235024 18400204	GWAS catalog, Orphanet	Voltage gated Potassium channels
PROGRESSIVE CONE DYSTROPHY	C0271092 C3665342 1871	ABCA4	Unknown	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		ARL3	Unknown	—	Disgenet	Trafficking of myristoylated proteins to the cilium
		CACNA1F	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		CACNA2D4	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		CNGB3	Unknown	15161866	Disgenet, Orphanet	cAMP signaling pathway
		GNAT2	Unknown	14609822	Disgenet, Orphanet	Phototransduction PLC beta mediated events G-protein activation +3 more
		GUCA1A	Unknown	15735604 9425234	Disgenet, Orphanet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		GUCY2D	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
		KCNV2	Unknown	—	Disgenet	Voltage gated Potassium channels
		MKKS	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		PCDH15	Unknown	—	Disgenet	—
		PDE6B	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PDE6C	Unknown	19615668	Disgenet, Orphanet	Purine metabolism Metabolic pathways
		PRPH2	Unknown	—	Disgenet	—
		USH2A	Unknown	—	Disgenet	—

Cone dystrophy

Bookmark This Disease