Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
LEBER CONGENITAL AMAUROSIS	C0339527 65 MONDO:0018998 MESH:D057130	FSCN2	Unknown	—	Disgenet
		GDF6	Unknown	23307924 25685757	Disgenet GWAS catalog Orphanet
		GIGYF2	Unknown	—	Disgenet
		GPHN	Unknown	—	Disgenet
		GUCA1B	Unknown	—	Disgenet
		IFT140	Unknown	26216056	ClinVar Disgenet Orphanet
		IMPDH1	Unknown	16384941 25685757 20301475	CTD Disgenet Orphanet
		LRP5	Unknown	—	Disgenet
		MYO7A	Unknown	—	Disgenet
		NBAS	Unknown	—	Disgenet
		NPHP1	Unknown	—	Disgenet
		NPHP3	Unknown	—	Disgenet
		NPHP4	Unknown	—	Disgenet
		NXNL1	Unknown	—	Disgenet GenCC
		PANK2	Unknown	—	Disgenet
		PCYT1A	Unknown	28272537	Disgenet GWAS catalog Orphanet
		PRPF31	Unknown	—	Disgenet
		PRPH2	Unknown	26061163 23105016	Disgenet GWAS catalog
		RBP1	Unknown	—	Disgenet
		RIMS1	Unknown	—	Disgenet
		RLIG1	Unknown	—	Disgenet
		RPGR	Unknown	—	Disgenet
		SLC38A8	Unknown	—	Disgenet
		TEAD3	Unknown	—	Disgenet
		TTC8	Unknown	—	Disgenet
		TUBB4B	Unknown	35240325	Disgenet Orphanet
		USP45	Unknown	30573563	Disgenet GWAS catalog Orphanet
		ZFYVE26	Unknown	—	Disgenet
		ZNF454	Unknown	—	Disgenet
LEBER CONGENITAL AMAUROSIS 1	204000 MONDO:0008764	GUCY2D	Causal	—	ClinVar GenCC HPO
LEBER CONGENITAL AMAUROSIS 10	611755 C1857821 MESH:C565720 MONDO:0012723	CEP290	Causal	16909394 17345604 20690115 28559085	CTD ClinVar Disgenet HPO
		WT1	Causal	—	Disgenet
		RLIG1	Unknown	—	Disgenet
LEBER CONGENITAL AMAUROSIS 11	613837 C1840284 MESH:C564140 MONDO:0013454	IMPDH1	Causal	—	CTD ClinVar Disgenet GenCC HPO
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
		GPHN	Unknown	—	Disgenet
		ZFYVE26	Unknown	—	Disgenet
LEBER CONGENITAL AMAUROSIS 14	C2750063 613341 MESH:C567636 MONDO:0013231	ABCA4	Causal	—	Disgenet
LEBER CONGENITAL AMAUROSIS 14	C2750063 613341 MESH:C567636 MONDO:0013231	LRAT	Causal	—	CTD ClinVar Disgenet GenCC HPO
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
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
LEBER CONGENITAL AMAUROSIS 19	618513 C5193139 MONDO:0032794	USP45	Causal	30573563	ClinVar Disgenet HPO
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
LEBER CONGENITAL AMAUROSIS 3	604232 C1858677 MESH:C565814 MONDO:0011415	SPATA7	Causal	—	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
LEBER CONGENITAL AMAUROSIS 5	604537 C1858301 MONDO:0011473	LCA5	Causal	—	ClinVar Disgenet GenCC HPO
LEBER CONGENITAL AMAUROSIS 5	604537 C1858301 MONDO:0011473	POU1F1	Unknown	—	Disgenet

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Leber congenital amaurosis