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 CLASSIC FORM		OPA1	Causal	—	ClinVar	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
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
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	98676 C5680331	GUCY2D	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	98676 C5680331	MCAT	Unknown	31915829	Disgenet, Orphanet	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +1 more
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	98676 C5680331	MECR	Unknown	37734847	Orphanet	Fatty acid biosynthesis Fatty acid elongation Metabolic pathways +2 more
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	98676 C5680331	RTN4IP1	Unknown	26593267	Disgenet, Orphanet	—
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	98676 C5680331	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
AUTOSOMAL RECESSIVE OPTIC ATROPHY	MONDO:0014753	MCAT	Unknown	31915829	CTD	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +1 more
AUTOSOMAL RECESSIVE OPTIC ATROPHY	MONDO:0014753	RTN4IP1	Unknown	26593267	GenCC	—
AUTOSOMAL RECESSIVE OPTIC ATROPHY	MONDO:0014753	YME1L1	Unknown	27495975	GWAS catalog	Processing of SMDT1
AUTOSOMAL RECESSIVE OPTIC ATROPHY TYPE 7	C5190807	TMEM126A	Unknown	—	Disgenet	—
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 MONDO_0003608 MESH:D009896	ABCA4	Causal	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	ABCC6	Causal	—	Disgenet	ABC transporters ABC-family proteins mediated transport Defective ABCC6 causes pseudoxanthoma elasticum (PXE)
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	ACO2	Causal	—	Disgenet	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	AFG3L2	Causal	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	BBS7	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CACNA1F	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CNGA3	Causal	—	Disgenet	cAMP signaling pathway Olfactory transduction
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CNGB3	Causal	—	Disgenet	cAMP signaling pathway
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	DNAJC30	Causal	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	GPR179	Causal	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	GUCY2D	Causal	—	Disgenet	Purine metabolism Metabolic pathways Olfactory transduction +2 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	MECR	Causal	—	Disgenet	Fatty acid biosynthesis Fatty acid elongation Metabolic pathways +2 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	OAT	Causal	—	Disgenet	Arginine and proline metabolism Metabolic pathways Glutamate and glutamine metabolism
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	OPA1	Causal	7951248	Disgenet, GenCC	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	PEX1	Causal	—	Disgenet	Peroxisome Peroxisomal protein import
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	PIGQ	Causal	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	RP1L1	Causal	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	RTN4IP1	Causal	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	SPG7	Causal	—	Disgenet	Processing of SMDT1
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	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	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	ABHD12	Unknown	24697911 20797687	Disgenet	Arachidonate production from DAG
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	ADGRA3	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	ADGRV1	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	AHI1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	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
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	AP5Z1	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	ARHGEF18	Unknown	—	Disgenet	Tight junction NRAGE signals death through JNK Rho GTPase cycle +2 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	ARL6	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	ATP6V1G3	Unknown	35121771	GWAS catalog	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	BBS10	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	BBS9	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	C1QTNF5	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CABP4	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CACNA2D4	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CC2D2A	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CDH23	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CDHR1	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CEP19	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	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
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	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
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	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
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CFH	Unknown	—	Disgenet	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	CLRN1	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	DNM1L	Unknown	17460227	CTD, Disgenet	Necroptosis NOD-like receptor signaling pathway TNF signaling pathway +1 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	MCAT	Unknown	—	Disgenet	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +1 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	MIEF1	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	OPA3	Unknown	—	Disgenet	—
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	SSBP1	Unknown	—	Disgenet	DNA replication Mismatch repair Homologous recombination +1 more
OPTIC ATROPHY	C0029124 MONDO:0003608 MONDO_0003608 MESH:D009896	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
OPTIC ATROPHY 1	C0338508 165500	OPA1	Unknown	—	Disgenet, HPO	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
OPTIC ATROPHY 1	C0338508 165500	OPA3	Unknown	—	Disgenet	—
OPTIC ATROPHY 1	C0338508 165500	WFS1	Unknown	—	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 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, INTELLECTUAL DISABILITY, AND SEIZURES	MONDO:0020737	RTN4IP1	Causal	26593267	ClinVar, Disgenet	—
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES	C4225227	RTN4IP1	Unknown	—	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 3, AUTOSOMAL DOMINANT	165300	OPA3	Unknown	—	HPO	—
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 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 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 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 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, 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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