Disease table of OPTIC ATROPHY OMIM ID: PS165500

Gene-disease associations table

GeneAssociated with OPTIC ATROPHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
RTN4IP1ClinVar, OMIMHGNC link6q211PS165500
ACO2ClinVar, OMIM, HUMSAVARHGNC link22q13.22PS165500, 614559
TMEM126AClinVar, OMIMHGNC link11q14.11PS165500
OPA3ClinVar, OMIM, HUMSAVARHGNC link19q13.322PS250950, PS165500
OPA1ClinVar, OMIM, HUMSAVARHGNC link3q296PS256300, 210000, PS165500, PS603041, 125250, 606657

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

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)

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.43RTN4IP1, OPA1, ACO2
catalytic activity (GO:0003824) 1.053RTN4IP1, OPA1, ACO2
metal ion binding (GO:0046872) 1.413RTN4IP1, OPA1, ACO2
binding (GO:0005488) 0.183RTN4IP1, OPA1, ACO2
ion binding (GO:0043167) 1.363RTN4IP1, OPA1, ACO2
transition metal ion binding (GO:0046914) 2.482RTN4IP1, ACO2
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
single-organism process (GO:0044699) 0.485RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
developmental process (GO:0032502) 1.363OPA1, OPA3, TMEM126A
single-organism developmental process (GO:0044767) 1.493OPA1, OPA3, TMEM126A
cellular process (GO:0009987) 0.263OPA1, OPA3, ACO2
single-organism cellular process (GO:0044763) 0.653OPA1, OPA3, ACO2
organelle organization (GO:0006996) 2.022OPA1, OPA3
single-organism metabolic process (GO:0044710) 1.632RTN4IP1, ACO2
multicellular organismal process (GO:0032501) 1.452OPA1, OPA3
cellular developmental process (GO:0048869) 1.822OPA1, OPA3
response to stimulus (GO:0050896) 1.222OPA1, OPA3
visual perception (GO:0007601) 4.412OPA1, OPA3
sensory perception (GO:0007600) 2.932OPA1, OPA3
sensory perception of light stimulus (GO:0050953) 4.42OPA1, OPA3
cellular component organization (GO:0016043) 1.242OPA1, OPA3
single-organism organelle organization (GO:1902589) 2.682OPA1, OPA3
biological regulation (GO:0065007) 0.392OPA1, OPA3
cellular component organization or biogenesis (GO:0071840) 1.222OPA1, OPA3
metabolic process (GO:0008152) 0.582RTN4IP1, ACO2
neurological system process (GO:0050877) 2.642OPA1, OPA3
regulation of biological process (GO:0050789) 0.452OPA1, OPA3
mitochondrion organization (GO:0007005) 3.692OPA1, OPA3
system process (GO:0003008) 2.32OPA1, OPA3
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.65RTN4IP1, ACO2, OPA1, TMEM126A, OPA3
cell part (GO:0044464) 0.115RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
cytoplasmic part (GO:0044444) 0.825RTN4IP1, ACO2, OPA1, TMEM126A, OPA3
mitochondrion (GO:0005739) 2.425RTN4IP1, ACO2, OPA1, TMEM126A, OPA3
intracellular organelle (GO:0043229) 0.515RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
intracellular part (GO:0044424) 0.285RTN4IP1, ACO2, OPA1, TMEM126A, OPA3
membrane-bounded organelle (GO:0043227) 0.475RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
organelle (GO:0043226) 0.45RTN4IP1, OPA1, TMEM126A, ACO2, OPA3
intracellular organelle part (GO:0044446) 0.813OPA1, TMEM126A, ACO2
mitochondrial part (GO:0044429) 2.923OPA1, TMEM126A, ACO2
organelle part (GO:0044422) 0.793OPA1, TMEM126A, ACO2
organelle membrane (GO:0031090) 1.972OPA1, TMEM126A
organelle lumen (GO:0043233) 3.052OPA1, ACO2
integral component of membrane (GO:0016021) 1.142OPA1, TMEM126A
membrane (GO:0016020) 0.682OPA1, TMEM126A
organelle inner membrane (GO:0019866) 3.562OPA1, TMEM126A
membrane-enclosed lumen (GO:0031974) 3.052OPA1, ACO2
mitochondrial membrane (GO:0031966) 3.312OPA1, TMEM126A
intracellular organelle lumen (GO:0070013) 3.052OPA1, ACO2
membrane part (GO:0044425) 0.952OPA1, TMEM126A
mitochondrial inner membrane (GO:0005743) 3.652OPA1, TMEM126A
intrinsic component of membrane (GO:0031224) 1.132OPA1, TMEM126A

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial inner membrane (GO:0005743) -3.650.017OPA1, TMEM126A, ACO2
organelle inner membrane (GO:0019866) -3.560.025OPA1, TMEM126A, ACO2
mitochondrial part (GO:0044429) -2.920.029OPA1, TMEM126A, ACO2
mitochondrion (GO:0005739) -2.420.006RTN4IP1, OPA1, TMEM126A, ACO2, OPA3