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    Top 5 diseases

    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for OPA3






    Basic information
    Official symbolOPA3
    Official full nameoptic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
    Location19q13.32
    Gene typeprotein-coding
    SynonymsMGA3
    Quick linksEntrez ID:80207; HGNC:8142; MIM:606580; Ensembl:ENSG00000125741; HPRD:05956; Vega:OTTHUMG00000182125
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0050953sensory perception of light stimulus2051002.5539.218.72e-1461.02e-142
    GO:0007601visual perception204992.5439.017.39e-1444.34e-141
    GO:0007600sensory perception4951036.1616.734.54e-1051.78e-102
    GO:0050877neurological system process123710615.396.891.82e-665.34e-64
    GO:0003008system process169510821.095.121.12e-542.63e-52
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Hsapiens_Module_26697167.162.240.00220.0114
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr194603002446089122258501"3-methylglutaconic aciduria, type III"360658019q13.32
    chr194603002446089122165300Optic atrophy 3 with cataract360658019q13.32
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr19460300244608912280207Opa3MGI:2686271MP:0003631nervous system phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005369muscle phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005370liver/biliary system phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005375adipose tissue phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005376homeostasis/metabolism phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005378growth/size phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005382craniofacial phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005384cellular phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005385cardiovascular system phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005386behavior/neurological phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005390skeleton phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0005391vision/eye phenotype
    chr19460300244608912280207Opa3MGI:2686271MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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