Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CONE DYSTROPHY	C0730290 MONDO:0000455	ABCA4	Causal	—	Disgenet
		ABHD12	Causal	—	Disgenet
		BBS5	Causal	—	Disgenet
		CABP4	Causal	—	Disgenet
		CDHR1	Causal	—	Disgenet
		CERKL	Causal	—	Disgenet
		CFAP410	Causal	—	Disgenet
		CNGA3	Causal	—	Disgenet
		CRB1	Causal	—	Disgenet
		GNAT2	Causal	14609822	Disgenet GWAS catalog
		GUCY2D	Causal	—	Disgenet
		KCNV2	Causal	—	Disgenet
		NMNAT1	Causal	—	Disgenet
		PDE6C	Causal	19615668	Disgenet GWAS catalog
		PITPNM3	Causal	—	Disgenet
		PRPH2	Causal	—	Disgenet
		RAB28	Causal	—	Disgenet
		RPGR	Causal	—	Disgenet
		RPGRIP1	Causal	—	Disgenet
		SRD5A3	Causal	—	Disgenet
		WDR19	Causal	—	Disgenet
		CACNA2D4	Unknown	—	Disgenet
		CNGB3	Unknown	15161866	Disgenet GWAS catalog
		GUCA1A	Unknown	9425234 15735604	Disgenet
		RGR	Unknown	—	Disgenet
		RP1L1	Unknown	25692141	Disgenet
		SAG	Unknown	—	Disgenet
CONE DYSTROPHY 3	602093 C1865869 MESH:C566579 MONDO:0011193	GUCA1A	Causal	—	CTD ClinGen ClinVar Disgenet GenCC HPO
		CACNA2D4	Unknown	—	Disgenet
		CIMIP3	Unknown	—	Disgenet
		GUCA1ANB-GUCA1A	Unknown	—	Disgenet
		GUCA1B	Unknown	—	Disgenet
		PDE6H	Unknown	—	Disgenet
		RHO	Unknown	—	Disgenet
CONE DYSTROPHY 4	613093 C2751308 MESH:C567758 MONDO:0013129	PDE6C	Causal	—	CTD ClinVar Disgenet GenCC HPO
CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE	209932 MONDO:0012475	KCNV2	Causal	16909397 19952985 18235024 18400204	GWAS catalog Orphanet
PROGRESSIVE CONE DYSTROPHY	C0271092 C3665342 1871	ABCA4	Unknown	—	Disgenet
		ARL3	Unknown	—	Disgenet
		CACNA1F	Unknown	—	Disgenet
		CACNA2D4	Unknown	—	Disgenet
		CNGB3	Unknown	15161866	Disgenet Orphanet
		GNAT2	Unknown	14609822	Disgenet Orphanet
		GUCA1A	Unknown	15735604 9425234	Disgenet Orphanet
		GUCY2D	Unknown	—	Disgenet
		KCNV2	Unknown	—	Disgenet
		MKKS	Unknown	—	Disgenet
		PCDH15	Unknown	—	Disgenet
		PDE6B	Unknown	—	Disgenet
		PDE6C	Unknown	19615668	Disgenet Orphanet
		PRPH2	Unknown	—	Disgenet

Cone dystrophy