eDiPNet

Include the contents of this disease's 12 subtypes in the table below

Show the subtypes

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
retinal dystrophy	MONDO_0019118 MONDO_0011987	ARHGEF18	Causal	28132693	Open Targets	Tight junction NRAGE signals death through JNK Rho GTPase cycle +2 more
		ARL6	Causal	19956407 28130426 31736247	Open Targets	BBSome-mediated cargo-targeting to cilium
		CEP250	Causal	24780881 28005958 30459346 30998843	Open Targets	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CLN3	Causal	23847139 24154662 28542676	Open Targets	Lysosome
		PRPS1	Causal	25491489 28967191	Open Targets	Pentose phosphate pathway Purine metabolism Metabolic pathways +3 more
		RPE65	Causal	21654732 27307694 29947567	Open Targets	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
		RPGRIP1	Causal	12920076 26992781 37761981	Open Targets	—
		SNRNP200	Causal	23847139 27735924 29320387 31260034	Open Targets	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
		TTC21B	Causal	21068128 33599192	Open Targets	Hedgehog 'off' state Intraflagellar transport

Retinal dystrophy