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    Data summary

    • Publications : 1001
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4631
    • SNVs : 3422
    • InDels : 1209
    • Last Update : 22/02/2019

    Detailed information for CFH






    Basic information
    Official symbolCDH23
    Official full namecadherin-related 23
    Location10q22.1
    Gene typeprotein-coding
    SynonymsCDHR23|USH1D
    Quick linksEntrez ID:64072; HGNC:13733; MIM:605516; Ensembl:ENSG00000107736; HPRD:05699; Vega:OTTHUMG00000019347
    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:0045494photoreceptor cell maintenance25220.3170.747.36e-401.44e-37
    GO:0043954cellular component maintenance38220.4746.546.20e-338.09e-31
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    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
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0000902cell morphogenesis9454211.763.572.49e-137.69e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0005509calcium ion binding668177.432.290.00130.0157
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    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:0001917photoreceptor inner segment20100.2245.843.14e-155.13e-14
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0032420stereocilium2380.2531.897.34e-119.59e-10
    GO:0032421stereocilium bundle2780.2927.173.20e-103.48e-09
    GO:0005902microvillus68100.7413.483.14e-093.24e-08
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-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
    chr107315569073493481601386"Deafness, autosomal recessive 12"360551610q22.1
    chr107315569073493481601067"Usher syndrome, type 1D"360551610q22.1
    chr107315569073493481601067"Usher syndrome, type 1D/F digenic"360551610q22.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr10731556907349348164072Cdh23MGI:1890219MP:0003631nervous system phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0005375adipose tissue phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0005376homeostasis/metabolism phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0005377hearing/vestibular/ear phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0005381digestive/alimentary phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0005385cardiovascular system phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0005386behavior/neurological phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0005389reproductive system phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0005391vision/eye phenotype
    chr10731556907349348164072Cdh23MGI:1890219MP:0010771integument phenotype
    Mutation spectrum

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    Gene-disease network

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