Oguchi disease | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
OGUCHI DISEASE	75382 C1306122 MESH:C537743 MONDO:0019152	SAG	Causal	15295660 22419846 7670478 9565049	CTD, ClinVar, Disgenet, Orphanet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		CACNA1F	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		GNAT1	Unknown	—	Disgenet	Phototransduction PLC beta mediated events G-protein activation +4 more
		GNB3	Unknown	—	Disgenet	Ras signaling pathway Chemokine signaling pathway Hormone signaling +45 more
		GRK1	Unknown	10097103 1656454 17765441 19364770 19753316 33252155 6091271 8383684 9020843 9478965	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	Chemokine signaling pathway Endocytosis Phototransduction +1 more
		GRM6	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Glutamatergic synapse +2 more
		GUCY2D	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
		LRIT3	Unknown	—	Disgenet	—
		NYX	Unknown	—	Disgenet	—
		PDE6B	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Phototransduction +3 more
		RHO	Unknown	—	Disgenet	Phototransduction The canonical retinoid cycle in rods (twilight vision) Activation of the phototransduction cascade +4 more
		SLC24A1	Unknown	—	Disgenet	Phototransduction Sodium/Calcium exchangers Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
		TRPM1	Unknown	—	Disgenet	TRP channels
		TRPV3	Unknown	—	Disgenet	Inflammatory mediator regulation of TRP channels TRP channels
OGUCHI DISEASE 1	258100 C4551824	SAG	Unknown	—	Disgenet, HPO	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
OGUCHI DISEASE 2	613411 C3150678	GRK1	Unknown	—	Disgenet, HPO	Chemokine signaling pathway Endocytosis Phototransduction +1 more
OGUCHI DISEASE 2	613411 C3150678	SAG	Unknown	—	Disgenet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
OGUCHI DISEASE-1	MONDO:0009775	SAG	Causal	7670478 9565049 9452120 22665972 15234147	ClinVar, GWAS catalog	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
OGUCHI DISEASE-2	MONDO:0013259	GRK1	Causal	9020843 17070587 26349155	ClinVar, GWAS catalog, ClinGen	Chemokine signaling pathway Endocytosis Phototransduction +1 more