Quick Search:

  • Top 5 genes

    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 USH1C






    Basic information
    Official symbolUSH1C
    Official full nameUsher syndrome 1C (autosomal recessive, severe)
    Location11p14.3
    Gene typeprotein-coding
    SynonymsAIE-75|DFNB18|DFNB18A|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|PDZD7C|ush1cpst
    Quick linksEntrez ID:10083; HGNC:12597; MIM:605242; Ensembl:ENSG00000006611; HPRD:09241; Vega:OTTHUMG00000166323
    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: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
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0031513nonmotile primary cilium80320.8736.671.40e-421.37e-40
    GO:0072372primary cilium96331.0531.522.93e-411.91e-39
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0001750photoreceptor outer segment37190.4047.083.03e-289.90e-27
    GO:0001917photoreceptor inner segment20100.2245.843.14e-155.13e-14
    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: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
    chr111751444117566963602092"Deafness, autosomal recessive 18A"360524211p15.1
    chr111751444117566963276904"Usher syndrome, type 1C"360524211p15.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr11175144411756696310083Ush1cMGI:1919338MP:0003631nervous system phenotype
    chr11175144411756696310083Ush1cMGI:1919338MP:0005377hearing/vestibular/ear phenotype
    chr11175144411756696310083Ush1cMGI:1919338MP:0005386behavior/neurological phenotype
    chr11175144411756696310083Ush1cMGI:1919338MP:0005389reproductive system phenotype
    chr11175144411756696310083Ush1cMGI:1919338MP:0005391vision/eye phenotype
    Mutation spectrum

    If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.

    Gene-disease network

    If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.


    Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.