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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 MKS1






    Basic information
    Official symbolMKS1
    Official full nameMeckel syndrome, type 1
    Location17q22
    Gene typeprotein-coding
    SynonymsBBS13|MES|MKS|POC12
    Quick linksEntrez ID:54903; HGNC:7121; MIM:609883; Ensembl:ENSG00000011143; HPRD:07900; Vega:OTTHUMG00000133714
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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: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: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:0044441cilium part110291.2024.171.90e-329.31e-31
    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: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
    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
    chr175628179656297666209900Bardet-Biedl syndrome 13360988317q22
    chr175628179656297666249000Meckel syndrome 1360988317q22
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr17562817965629766654903Mks1MGI:3584243MP:0003631nervous system phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005367renal/urinary system phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005370liver/biliary system phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005371limbs/digits/tail phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005376homeostasis/metabolism phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005377hearing/vestibular/ear phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005378growth/size phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005379endocrine/exocrine gland phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005380embryogenesis phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005381digestive/alimentary phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005382craniofacial phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005384cellular phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005385cardiovascular system phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005387immune system phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005388respiratory system phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005389reproductive system phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005390skeleton phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005391vision/eye phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0005397hematopoietic system phenotype
    chr17562817965629766654903Mks1MGI:3584243MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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