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    Data summary

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

    Detailed information for COL9A1






    Basic information
    Official symbolCRB1
    Official full namecrumbs homolog 1 (Drosophila)
    Location1q31-q32.1
    Gene typeprotein-coding
    SynonymsLCA8|RP12
    Quick linksEntrez ID:23418; HGNC:2343; MIM:604210; Ensembl:ENSG00000134376; HPRD:05019; Vega:OTTHUMG00000035663
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0046530photoreceptor cell differentiation41200.5139.215.82e-284.27e-26
    GO:0042461photoreceptor cell development30180.3748.231.64e-271.13e-25
    GO:0001754eye photoreceptor cell differentiation34160.4237.833.06e-221.50e-20
    GO:0048592eye morphogenesis126241.5715.315.38e-222.53e-20
    GO:0042462eye photoreceptor cell development25140.3145.025.07e-212.29e-19
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005509calcium ion binding668177.432.290.00130.0157
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0005902microvillus68100.7413.483.14e-093.24e-08
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    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
    chr1197236333197448585613835Leber congenital amaurosis 836042101q31.3
    chr1197236333197448585172870Pigmented paravenous chorioretinal atrophy36042101q31.3
    chr1197236333197448585600105"Retinitis pigmentosa-12, autosomal recessive"36042101q31.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr119723633319744858523418Crb1MGI:2136343MP:0001186pigmentation phenotype
    chr119723633319744858523418Crb1MGI:2136343MP:0003631nervous system phenotype
    chr119723633319744858523418Crb1MGI:2136343MP:0005376homeostasis/metabolism phenotype
    chr119723633319744858523418Crb1MGI:2136343MP:0005391vision/eye phenotype
    chr119723633319744858523418Crb1MGI:2136343MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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