Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT OPTIC ATROPHY CLASSIC FORM		OPA1	Causal	—	ClinVar	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE	227976 MONDO:0013069	TMEM126A	Causal	19327736 20405026 22815638 23500070 30961538 31119195 33879611 33882309 36071901	ClinGen, ClinVar, GWAS catalog, Orphanet	—
OPTIC ATROPHY	C0029124 MONDO:0003608	ABCA4	Causal	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		ABCC6	Causal	—	Disgenet	ABC transporters ABC-family proteins mediated transport Defective ABCC6 causes pseudoxanthoma elasticum (PXE)
		ACO2	Causal	—	Disgenet	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		AFG3L2	Causal	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
		BBS7	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		CACNA1F	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		CNGA3	Causal	—	Disgenet	cAMP signaling pathway Olfactory transduction
		CNGB3	Causal	—	Disgenet	cAMP signaling pathway
		DNAJC30	Causal	—	Disgenet	—
		GPR179	Causal	—	Disgenet	—
		GUCY2D	Causal	—	Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
		MECR	Causal	—	Disgenet	Fatty acid biosynthesis Fatty acid elongation Metabolic pathways +2 more
		OAT	Causal	—	Disgenet	Arginine and proline metabolism Metabolic pathways Glutamate and glutamine metabolism
		OPA1	Causal	7951248	Disgenet, GenCC	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		PEX1	Causal	—	Disgenet	Peroxisome Peroxisomal protein import
		PIGQ	Causal	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		RP1L1	Causal	—	Disgenet	—
		RTN4IP1	Causal	—	Disgenet	—
		SPG7	Causal	—	Disgenet	Processing of SMDT1
		WFS1	Causal	—	Disgenet	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, INTELLECTUAL DISABILITY, AND SEIZURES	MONDO:0020737	RTN4IP1	Causal	26593267	ClinVar, Disgenet	—
OPTIC ATROPHY 11	617302 C4310628 MONDO:0015011 OMIM:617302	YME1L1	Causal	27495975	CTD, ClinGen, ClinVar, Disgenet, HPO	Processing of SMDT1
OPTIC ATROPHY 12	618977 C5436534 MONDO:0033549	AFG3L2	Causal	10395799 17101804 18337413 22022284 30239781 32219868 32248051 7926051	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Spinocerebellar ataxia Processing of SMDT1
OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES	165510 C5435585 MONDO:0008135	SSBP1	Causal	28638454 31298765 31479473 31550237 31550240	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	DNA replication Mismatch repair Homologous recombination +1 more
OPTIC ATROPHY 14	620550 C5882708 MONDO:0957824	MIEF1	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
OPTIC ATROPHY 15	620583 C5882716 MONDO:0957935	MCAT	Causal	31915829 33918393	ClinGen, ClinVar, Disgenet, HPO	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +1 more
OPTIC ATROPHY 16	620629 C5882723 MONDO:0957978	MECR	Causal	—	ClinVar, Disgenet, HPO	Fatty acid biosynthesis Fatty acid elongation Metabolic pathways +2 more
OPTIC ATROPHY 3	MONDO:0008133	OPA3	Causal	15342707 25159689 28050599	ClinGen, ClinVar, GWAS catalog	—
OPTIC ATROPHY 5	610708 C1853139 MESH:C537126 MONDO:0012543	DNM1L	Causal	28969390	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Necroptosis NOD-like receptor signaling pathway TNF signaling pathway +1 more
OPTIC ATROPHY 9	616289 C4225384 MONDO:0014571 OMIM:616289	ACO2	Causal	22405087 25351951 26992325 29564393 30118607 31765440 32449285 33028849 34056600 37460232	CTD, ClinGen, ClinVar, Disgenet, HPO	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	C3276549 MONDO:0007429	OPA1	Causal	15531309 16158427 16240368 20157015	ClinVar, Disgenet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis

Optic atrophy

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