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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 EYS






    Basic information
    Official symbolCRX
    Official full namecone-rod homeobox
    Location19q13.3
    Gene typeprotein-coding
    SynonymsCORD2|CRD|LCA7|OTX3
    Quick linksEntrez ID:1406; HGNC:2383; MIM:602225; Ensembl:ENSG00000105392; HPRD:03748; Vega:OTTHUMG00000170610
    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:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    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:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    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:0005515protein binding733710281.611.250.00110.0149
    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
    chr194832409848347586120970Cone-rod retinal dystrophy-2360222519q13.33
    chr194832409848347586613829Leber congenital amaurosis 7360222519q13.33
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1948324098483475861406CrxMGI:1194883MP:0001186pigmentation phenotype
    chr1948324098483475861406CrxMGI:1194883MP:0003631nervous system phenotype
    chr1948324098483475861406CrxMGI:1194883MP:0005386behavior/neurological phenotype
    chr1948324098483475861406CrxMGI:1194883MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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