Disease table of OPTIC ATROPHY OMIM ID: PS165500

Gene-disease associations table

Gene	Associated with OPTIC ATROPHY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
RTN4IP1	ClinVar, OMIM	HGNC link	6q21	1	PS165500
ACO2	ClinVar, OMIM, HUMSAVAR	HGNC link	22q13.2	2	PS165500, 614559
TMEM126A	ClinVar, OMIM	HGNC link	11q14.1	1	PS165500
OPA3	ClinVar, OMIM, HUMSAVAR	HGNC link	19q13.32	2	PS250950, PS165500
OPA1	ClinVar, OMIM, HUMSAVAR	HGNC link	3q29	6	PS256300, 210000, PS165500, PS603041, 125250, 606657

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
ACO2	OPA3	No	1	APP
ACO2	OPA1	No	2	NTRK1, APP
OPA3	OPA1	No	1	APP

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms (no NET-GE enrichment)

GO	IC	Number of genes with the same GO	Genes
cation binding (GO:0043169)	1.4	3	RTN4IP1, OPA1, ACO2
catalytic activity (GO:0003824)	1.05	3	RTN4IP1, OPA1, ACO2
metal ion binding (GO:0046872)	1.41	3	RTN4IP1, OPA1, ACO2
binding (GO:0005488)	0.18	3	RTN4IP1, OPA1, ACO2
ion binding (GO:0043167)	1.36	3	RTN4IP1, OPA1, ACO2
transition metal ion binding (GO:0046914)	2.48	2	RTN4IP1, ACO2

GO - biological process annotation: shared terms (no NET-GE enrichment)

GO	IC	Number of genes with the same GO	Genes
single-organism process (GO:0044699)	0.48	5	RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
developmental process (GO:0032502)	1.36	3	OPA1, OPA3, TMEM126A
single-organism developmental process (GO:0044767)	1.49	3	OPA1, OPA3, TMEM126A
cellular process (GO:0009987)	0.26	3	OPA1, OPA3, ACO2
single-organism cellular process (GO:0044763)	0.65	3	OPA1, OPA3, ACO2
organelle organization (GO:0006996)	2.02	2	OPA1, OPA3
single-organism metabolic process (GO:0044710)	1.63	2	RTN4IP1, ACO2
multicellular organismal process (GO:0032501)	1.45	2	OPA1, OPA3
cellular developmental process (GO:0048869)	1.82	2	OPA1, OPA3
response to stimulus (GO:0050896)	1.22	2	OPA1, OPA3
visual perception (GO:0007601)	4.41	2	OPA1, OPA3
sensory perception (GO:0007600)	2.93	2	OPA1, OPA3
sensory perception of light stimulus (GO:0050953)	4.4	2	OPA1, OPA3
cellular component organization (GO:0016043)	1.24	2	OPA1, OPA3
single-organism organelle organization (GO:1902589)	2.68	2	OPA1, OPA3
biological regulation (GO:0065007)	0.39	2	OPA1, OPA3
cellular component organization or biogenesis (GO:0071840)	1.22	2	OPA1, OPA3
metabolic process (GO:0008152)	0.58	2	RTN4IP1, ACO2
neurological system process (GO:0050877)	2.64	2	OPA1, OPA3
regulation of biological process (GO:0050789)	0.45	2	OPA1, OPA3
mitochondrion organization (GO:0007005)	3.69	2	OPA1, OPA3
system process (GO:0003008)	2.3	2	OPA1, OPA3

GO - cellular component annotation: shared terms / NET-GE enrichment

GO	IC	Number of genes with the same GO	Genes
intracellular membrane-bounded organelle (GO:0043231)	0.6	5	RTN4IP1, ACO2, OPA1, TMEM126A, OPA3
cell part (GO:0044464)	0.11	5	RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
cytoplasmic part (GO:0044444)	0.82	5	RTN4IP1, ACO2, OPA1, TMEM126A, OPA3
mitochondrion (GO:0005739)	2.42	5	RTN4IP1, ACO2, OPA1, TMEM126A, OPA3
intracellular organelle (GO:0043229)	0.51	5	RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
intracellular part (GO:0044424)	0.28	5	RTN4IP1, ACO2, OPA1, TMEM126A, OPA3
membrane-bounded organelle (GO:0043227)	0.47	5	RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
organelle (GO:0043226)	0.4	5	RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
intracellular organelle part (GO:0044446)	0.81	3	OPA1, TMEM126A, ACO2
mitochondrial part (GO:0044429)	2.92	3	OPA1, TMEM126A, ACO2
organelle part (GO:0044422)	0.79	3	OPA1, TMEM126A, ACO2
organelle membrane (GO:0031090)	1.97	2	OPA1, TMEM126A
organelle lumen (GO:0043233)	3.05	2	OPA1, ACO2
integral component of membrane (GO:0016021)	1.14	2	OPA1, TMEM126A
membrane (GO:0016020)	0.68	2	OPA1, TMEM126A
organelle inner membrane (GO:0019866)	3.56	2	OPA1, TMEM126A
membrane-enclosed lumen (GO:0031974)	3.05	2	OPA1, ACO2
mitochondrial membrane (GO:0031966)	3.31	2	OPA1, TMEM126A
intracellular organelle lumen (GO:0070013)	3.05	2	OPA1, ACO2
membrane part (GO:0044425)	0.95	2	OPA1, TMEM126A
mitochondrial inner membrane (GO:0005743)	3.65	2	OPA1, TMEM126A
intrinsic component of membrane (GO:0031224)	1.13	2	OPA1, TMEM126A

Term	New enriched term	IC	P value	Genes
mitochondrial inner membrane (GO:0005743)	-	3.65	0.017	OPA1, TMEM126A, ACO2
organelle inner membrane (GO:0019866)	-	3.56	0.025	OPA1, TMEM126A, ACO2
mitochondrial part (GO:0044429)	-	2.92	0.029	OPA1, TMEM126A, ACO2
mitochondrion (GO:0005739)	-	2.42	0.006	RTN4IP1, OPA1, TMEM126A, ACO2, OPA3