Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT OPTIC ATROPHY	MONDO:0020250	SPG7	Unknown	16534102 18799786 22571692 33598982 34500365 9635427	Disgenet	Processing of SMDT1
AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT	67036	OPA3	Unknown	15342707	Orphanet	—
AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME	1215 MONDO:0014720	OPA1	Unknown	18158317 22776096	GWAS catalog, Orphanet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM	98673 MONDO:0008134	DNM1L	Unknown	28969390	GWAS catalog, Orphanet	Necroptosis NOD-like receptor signaling pathway TNF signaling pathway +1 more
AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM	98673 MONDO:0008134	OPA1	Unknown	20301426	GenCC, Orphanet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	98676 C5680331	ACO2	Unknown	25351951	Disgenet, Orphanet	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		GUCY2D	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
		MCAT	Unknown	31915829	Disgenet, Orphanet	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +1 more
		MECR	Unknown	37734847	Orphanet	Fatty acid biosynthesis Fatty acid elongation Metabolic pathways +2 more
		RTN4IP1	Unknown	26593267	Disgenet, Orphanet	—
		YME1L1	Unknown	27495975	Disgenet, Orphanet	Processing of SMDT1
AUTOSOMAL RECESSIVE OPTIC ATROPHY	MONDO:0014753	ACO2	Unknown	25351951	GWAS catalog	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		MCAT	Unknown	31915829	CTD	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +1 more
		RTN4IP1	Unknown	26593267	GenCC	—
		YME1L1	Unknown	27495975	GWAS catalog	Processing of SMDT1
AUTOSOMAL RECESSIVE OPTIC ATROPHY TYPE 7	C5190807	TMEM126A	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO_0003608 MESH:D009896 MONDO:0003608	ABHD12	Unknown	24697911 20797687	Disgenet	Arachidonate production from DAG
		ADGRA3	Unknown	—	Disgenet	—
		ADGRV1	Unknown	—	Disgenet	—
		AHI1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		ALMS1	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		AP5Z1	Unknown	—	Disgenet	—
		ARHGEF18	Unknown	—	Disgenet	Tight junction NRAGE signals death through JNK Rho GTPase cycle +2 more
		ARL6	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		ATP6V1G3	Unknown	35121771	GWAS catalog	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		BBS10	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS9	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		C1QTNF5	Unknown	—	Disgenet	—
		CABP4	Unknown	—	Disgenet	—
		CACNA2D4	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		CC2D2A	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		CDH23	Unknown	—	Disgenet	—
		CDHR1	Unknown	—	Disgenet	—
		CEP19	Unknown	—	Disgenet	—
		CEP250	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CEP290	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CEP78	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CFH	Unknown	—	Disgenet	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CLRN1	Unknown	—	Disgenet	—
		CNGA1	Unknown	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Phototransduction +2 more
		CNGB1	Unknown	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Olfactory transduction +4 more
		COL2A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		COL9A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		COX1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		CRB1	Unknown	—	Disgenet	Hippo signaling pathway
		CSPP1	Unknown	—	Disgenet	—
		CWC27	Unknown	—	Disgenet	mRNA Splicing - Major Pathway
		CYP4V2	Unknown	—	Disgenet	Endogenous sterols The canonical retinoid cycle in rods (twilight vision)
		DNM1L	Unknown	17460227	CTD, Disgenet	Necroptosis NOD-like receptor signaling pathway TNF signaling pathway +1 more
		DTHD1	Unknown	—	Disgenet	—
		DYNC2H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +3 more
		EFEMP1	Unknown	—	Disgenet	Molecules associated with elastic fibres
		ELOVL1	Unknown	—	Disgenet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
		ESPN	Unknown	—	Disgenet	—
		EYS	Unknown	—	Disgenet	—
		FBLN5	Unknown	—	Disgenet	Elastic fibre formation Molecules associated with elastic fibres
		MCAT	Unknown	—	Disgenet	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +1 more
		OPA3	Unknown	—	Disgenet	—
		TMEM126A	Unknown	22815638 20405026 19327736	Disgenet, GenCC	—
OPTIC ATROPHY 1	C0338508 165500	DNM1L	Unknown	—	Disgenet	Necroptosis NOD-like receptor signaling pathway TNF signaling pathway +1 more
		OPA1	Unknown	—	Disgenet, HPO	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		OPA3	Unknown	—	Disgenet	—
OPTIC ATROPHY 1 AND DEAFNESS	MESH:C537124	OPA1	Unknown	—	CTD	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES	616732 OMIM:616732	RTN4IP1	Unknown	—	CTD, HPO	—
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES	C4225227	RTN4IP1	Unknown	—	Disgenet	—
OPTIC ATROPHY 3, AUTOSOMAL DOMINANT	165300	OPA3	Unknown	—	HPO	—
OPTIC ATROPHY 7	C2751812 MESH:C567833	TMEM126A	Unknown	—	CTD, Disgenet	—
OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY	612989	TMEM126A	Unknown	19327736 20405026 22815638	HPO	—
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT	C1833809 MESH:C537128	OPA3	Unknown	—	CTD, Disgenet	—
OPTIC ATROPHY PLUS SYNDROME	125250	OPA1	Unknown	—	HPO	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
OPTIC ATROPHY, AUTOSOMAL DOMINANT	MESH:D029241	OPA1	Unknown	19900585 23409176	CTD	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis

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Optic atrophy

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