Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
MACULAR DYSTROPHY	C0730292	ABCA4	Causal	—	Disgenet
		ATF6	Causal	—	Disgenet
		BEST1	Causal	—	Disgenet
		CDH3	Causal	—	Disgenet
		CERKL	Causal	—	Disgenet
		CNGA1	Causal	—	Disgenet
		CNGA3	Causal	—	Disgenet
		CNGB3	Causal	—	Disgenet
		COL18A1	Causal	—	Disgenet
		CRB1	Causal	—	Disgenet
		CRX	Causal	—	Disgenet
		EFEMP1	Causal	—	Disgenet
		EYS	Causal	—	Disgenet
		GUCY2D	Causal	—	Disgenet
		IMPG2	Causal	—	Disgenet
		PROM1	Causal	—	Disgenet
		PRPH2	Causal	—	Disgenet
		RDH12	Causal	—	Disgenet
		RPGR	Causal	—	Disgenet
		THRB	Causal	—	Disgenet
		UNC119	Causal	—	Disgenet
		USH2A	Causal	—	Disgenet
		CACNA1F	Unknown	—	Disgenet
		GPHN	Unknown	—	Disgenet
		GUCA1A	Unknown	—	Disgenet
		GUCA1ANB-GUCA1A	Unknown	—	Disgenet
		HK1	Unknown	—	Disgenet
		IMPG1	Unknown	—	Disgenet
		PDE6B	Unknown	—	Disgenet
		ROM1	Unknown	—	Disgenet
		RP2	Unknown	—	Disgenet
		SLC19A1	Unknown	—	Disgenet
		TOPORS	Unknown	—	Disgenet
		TTC8	Unknown	—	Disgenet
		ZFYVE26	Unknown	—	Disgenet
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT	616170 C4015371 MONDO:0014515 OMIM:616170	MFSD8	Causal	25227500 28041642 28586915	CTD ClinVar Disgenet HPO
MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION	620762 C5935594 MONDO:0958326	SAMD7	Causal	38272031	ClinVar Disgenet GWAS catalog HPO
		GPHN	Unknown	—	Disgenet
		RDH12	Unknown	—	Disgenet
		ZFYVE26	Unknown	—	Disgenet
MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2	C1837029	CTNNA1	Unknown	—	Disgenet
MACULAR DYSTROPHY, CONCENTRIC ANNULAR	MESH:C537833	IMPG1	Unknown	—	CTD
MACULAR DYSTROPHY, CORNEAL	217800	CHST6	Unknown	—	HPO
MACULAR DYSTROPHY, CORNEAL TYPE 1	C1636149 MESH:C537834	CHST6	Unknown	—	CTD Disgenet
MACULAR DYSTROPHY, PATTERNED, 1	C4551999 169150	CTNNA1	Unknown	—	Disgenet
		OTX2	Unknown	—	Disgenet
		PRPH2	Unknown	—	Disgenet HPO
MACULAR DYSTROPHY, PATTERNED, 2	608970	CTNNA1	Unknown	—	HPO
MACULAR DYSTROPHY, PATTERNED, 3	617111	MAPKAPK3	Unknown	—	HPO
MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE	136550	-	Unknown	—	HPO

Macular dystrophy