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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for LCA5






    Basic information
    Official symbolLCA5
    Official full nameLeber congenital amaurosis 5
    Location6q14.1
    Gene typeprotein-coding
    SynonymsC6orf152
    Quick linksEntrez ID:167691; HGNC:31923; MIM:611408; Ensembl:ENSG00000135338; HPRD:10791; Vega:OTTHUMG00000015080
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0044441cilium part110291.2024.171.90e-329.31e-31
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0005932microtubule basal body66200.7227.785.27e-241.48e-22
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0005815microtubule organizing center486315.305.851.61e-152.87e-14
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005930axoneme70100.7613.104.21e-093.93e-08
    GO:0035085cilium axoneme5290.5715.874.42e-093.94e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    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
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr68019370780248147604537Leber congenital amaurosis 536114086q14.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr68019370780248147167691Lca5MGI:1923032MP:0001186pigmentation phenotype
    chr68019370780248147167691Lca5MGI:1923032MP:0003631nervous system phenotype
    chr68019370780248147167691Lca5MGI:1923032MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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