Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
NYSTAGMUS	C0028738	CASK	Causal	—	Disgenet
		CEP290	Causal	—	Disgenet
		CNGB3	Causal	—	Disgenet
		COL18A1	Causal	—	Disgenet
		GPR143	Causal	—	Disgenet
		INPP4A	Causal	—	Disgenet
		KARS1	Causal	—	Disgenet
		KCNV2	Causal	—	Disgenet
		MKS1	Causal	—	Disgenet
		MYO5A	Causal	—	Disgenet
		NDP	Causal	—	Disgenet
		PAX6	Causal	—	Disgenet
		RPE65	Causal	—	Disgenet
		SIX6	Causal	—	Disgenet
		TMEM67	Causal	—	Disgenet
		TYR	Causal	—	Disgenet
		BFSP2	Unknown	—	Disgenet
		C14ORF39	Unknown	—	Disgenet
		COQ8A	Unknown	—	Disgenet
		ELP4	Unknown	—	Disgenet
		GALC	Unknown	—	Disgenet
		GNB1	Unknown	—	Disgenet
		GUCY2D	Unknown	—	Disgenet
		HARS1	Unknown	—	Disgenet
		KIF7	Unknown	—	Disgenet
		MIP	Unknown	—	Disgenet
		NDUFA13	Unknown	—	Disgenet
		NMNAT1	Unknown	—	Disgenet
		OPHN1	Unknown	—	Disgenet
		OTX2	Unknown	—	Disgenet
		RHO	Unknown	—	Disgenet
		RPGRIP1	Unknown	—	Disgenet
		RUBCN	Unknown	—	Disgenet
		SCLT1	Unknown	—	Disgenet
		SETX	Unknown	—	Disgenet
		SGSH	Unknown	—	Disgenet
		SLC19A1	Unknown	—	Disgenet
		TBC1D24	Unknown	—	Disgenet
		TFAP2A	Unknown	—	Disgenet
NYSTAGMUS 1, CONGENITAL, X- LINKED	C1839580 MESH:C537853	FRMD7	Unknown	19892780	CTD Disgenet
NYSTAGMUS 1, CONGENITAL, X-LINKED	310700 MONDO:0010693	FRMD7	Causal	17013395 17962394 19072571 16240070 21746984 18087240 17397053 25678693	ClinVar GWAS catalog HPO
NYSTAGMUS 6, CONGENITAL, X-LINKED	300814 C3151752 MONDO:0010435 OMIM:300814	GPR143	Causal	18523664 18978956 19390656 26160353	CTD ClinVar Disgenet GWAS catalog HPO
NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE	257400 C3151571	ROBO1	Unknown	—	Disgenet HPO
NYSTAGMUS, CONGENITAL	MESH:D020417	AHR	Unknown	23301081	CTD
		ATF6	Unknown	26029869	CTD
		RPE65	Unknown	32971638	CTD
NYSTAGMUS, CONGENITAL, AUTOSOMAL RECESSIVE	MONDO:0009762	ROBO1	Unknown	—	ClinVar GenCC
NYSTAGMUS, PATHOLOGIC	MESH:D009759	RPGRIP1	Unknown	11283794	CTD

Nystagmus