Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AMAUROSIS CONGENITA OF LEBER, TYPE 1	C2931258 MESH:C536600	CRB1	Unknown	—	Disgenet
		CRX	Unknown	—	Disgenet
		GUCY2D	Unknown	—	CTD Disgenet
		LCA5	Unknown	—	Disgenet
		LRAT	Unknown	—	Disgenet
		PROM1	Unknown	—	Disgenet
		RP1	Unknown	—	Disgenet
		RPGRIP1	Unknown	—	Disgenet
		TULP1	Unknown	—	Disgenet
AMAUROSIS CONGENITA OF LEBER, TYPE 2	C1859844 MESH:C536601	RPE65	Unknown	—	CTD Disgenet
AMAUROSIS CONGENITA OF LEBER, TYPE 5	MESH:C536602	LCA5	Unknown	—	CTD
AMAUROSIS CONGENITA OF LEBER, TYPE 9	MESH:C536603	NMNAT1	Unknown	—	CTD
LEBER CONGENITAL AMAUROSIS	C0339527 65 MONDO:0018998 MESH:D057130	ABCA4	Causal	—	Disgenet
		AHI1	Causal	—	Disgenet
		AIPL1	Causal	20301475 25685757	Disgenet GWAS catalog Orphanet
		ALMS1	Causal	—	Disgenet
		CDHR1	Causal	—	Disgenet
		CEP290	Causal	20301475 25685757	ClinGen Disgenet Orphanet
		CFAP410	Causal	—	Disgenet
		CLUAP1	Causal	26820066	Disgenet
		CNGB3	Causal	—	Disgenet
		CRB1	Causal	11389483 20301475 25685757	CTD Disgenet GWAS catalog Orphanet
		CRX	Causal	20301475 25685757 9537410 9931337	CTD Disgenet GWAS catalog Orphanet
		GRM6	Causal	—	Disgenet
		GUCY2D	Causal	20301475 25685757	CTD Disgenet Orphanet
		INPP5E	Causal	—	Disgenet
		IQCB1	Causal	20881296 21901789	ClinVar Disgenet Orphanet
		KCNJ13	Causal	20301475 21763485 25685757	Disgenet GWAS catalog Orphanet
		LCA5	Causal	17546029 25685757 20301475	Disgenet GWAS catalog Orphanet
		LRAT	Causal	17011878 25685757 20301475 19339306	CTD Disgenet Orphanet
		NMNAT1	Causal	20301475 22842227 25685757 22842229 22842230 22842231	CTD Disgenet Orphanet
		NR2E3	Causal	—	Disgenet
		OTX2	Causal	—	Disgenet
		PDE6A	Causal	—	Disgenet
		PDE6B	Causal	—	Disgenet
		PROM1	Causal	—	Disgenet
		RD3	Causal	17186464 25685757 20301475	Disgenet GWAS catalog Orphanet
		RDH12	Causal	15322982 25685757 20301475	CTD Disgenet Orphanet
		RGS9	Causal	—	Disgenet
		RP2	Causal	—	Disgenet
		RPE65	Causal	19339306 9326927 9501220 20301475 25495949 25685757	CTD Disgenet GWAS catalog Orphanet
		RPGRIP1	Causal	11283794 11528500 25685757 20301475	CTD Disgenet Orphanet
		RPGRIP1L	Causal	—	Disgenet
		SPATA7	Causal	19268277 25685757 20301475	CTD Disgenet GWAS catalog Orphanet
		TULP1	Causal	17962469 25685757 20301475	CTD Disgenet Orphanet
		USH2A	Causal	—	Disgenet
		WDR19	Causal	—	Disgenet
		ADAMTS18	Unknown	—	Disgenet
		CCT2	Unknown	27645772	Disgenet GWAS catalog
		DTHD1	Unknown	—	Disgenet

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Leber congenital amaurosis