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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 MKKS






    Basic information
    Official symbolMKKS
    Official full nameMcKusick-Kaufman syndrome
    Location20p12
    Gene typeprotein-coding
    SynonymsBBS6|HMCS|KMS|MKS
    Quick linksEntrez ID:8195; HGNC:7108; MIM:604896; Ensembl:ENSG00000125863; HPRD:05356; Vega:OTTHUMG00000031868
    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:0009582detection of abiotic stimulus83271.0326.151.40e-311.49e-29
    GO:0009581detection of external stimulus100271.2421.704.42e-293.99e-27
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0060271cilium morphogenesis97251.2120.722.04e-261.26e-24
    GO:0042384cilium assembly75210.9322.513.56e-231.90e-21
    GO:0051606detection of stimulus202272.5110.742.10e-209.13e-19
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0010927cellular component assembly involved in morphogenesis137221.7012.911.49e-186.03e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0030031cell projection assembly204242.549.466.34e-172.33e-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:0043168anion binding24024026.721.500.00480.0336
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0005815microtubule organizing center486315.305.851.61e-152.87e-14
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0005813centrosome376224.105.361.49e-101.83e-09
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    GO:0031514motile cilium1250.1338.201.09e-078.90e-07
    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
    chr201038442710415887209900Bardet-Biedl syndrome 6360489620p12.2
    chr201038442710415887236700McKusick-Kaufman syndrome360489620p12.2
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr2010384427104158878195MkksMGI:1891836MP:0003631nervous system phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005371limbs/digits/tail phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005376homeostasis/metabolism phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005377hearing/vestibular/ear phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005378growth/size phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005382craniofacial phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005385cardiovascular system phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005386behavior/neurological phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005388respiratory system phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005389reproductive system phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005391vision/eye phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0005394taste/olfaction phenotype
    chr2010384427104158878195MkksMGI:1891836MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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