Eye disorders | Gene-Disease Associations & Pathways | GeDiPNet

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Show by gene (one row per gene, with all of its disease terms together)

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
Disorder of eye	C0015397	C9ORF72	Unknown	—	Disgenet	—
		COL2A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		F2	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Complement and coagulation cascades +17 more
		IL18	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor NOD-like receptor signaling pathway +18 more
		IL1B	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +47 more
		MARK3	Unknown	—	Disgenet	RAF activation MAP2K and MAPK activation Negative regulation of MAPK pathway +5 more
		MTHFR	Unknown	—	Disgenet	One carbon pool by folate Metabolic pathways Antifolate resistance +2 more
		POMC	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		RPGRIP1L	Unknown	—	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		SCD	Unknown	—	Disgenet	Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism +6 more
Eye Disorders	MONDO_0005328	AIPL1	Unknown	25148430	Open Targets	Cushing syndrome Chemical carcinogenesis - receptor activation
		B3GLCT	Unknown	19796186 16909395 18798333	Open Targets	Other types of O-glycan biosynthesis Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		CEP290	Unknown	17345604	Open Targets	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CNNM4	Unknown	27419834	Open Targets	—
		COL2A1	Unknown	17347327 18541977	Open Targets	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		CRB1	Unknown	23077403 21484995	Open Targets	Hippo signaling pathway
		FREM2	Unknown	15838507	Open Targets	ECM-receptor interaction
		FZD4	Unknown	30882657 28413837	Open Targets	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +19 more
		GPR143	Unknown	21423867 26160353 21541274 26061757 8634705 11793467 19390656	Open Targets	Amine ligand-binding receptors G alpha (q) signalling events
		GRIP1	Unknown	22510445	Open Targets	Trafficking of GluR2-containing AMPA receptors
		GUCA1B	Unknown	21405999 15452722	Open Targets	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		LRP5	Unknown	28111184 29131652 20034086	Open Targets	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action +11 more
		MAK	Unknown	26894652 21835304 22110072 21825139 21148103 25385675 25255364	Open Targets	—
		MFSD8	Unknown	28586915 25227500	Open Targets	Lysosome
		NDP	Unknown	26130484 29321361 17334993 29617172	Open Targets	—
		NPHP1	Unknown	34415307	Open Targets	Anchoring of the basal body to the plasma membrane
		PITX3	Unknown	20033184 29405783 9620774	Open Targets	—
		RDH12	Unknown	31505163	Open Targets	Retinol metabolism Metabolic pathways Biosynthesis of cofactors +2 more
		RP1	Unknown	8931712 25692139 15863674 10391211	Open Targets	—
		SEMA4A	Unknown	16199541	Open Targets	Axon guidance Other semaphorin interactions