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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 NPHP4






    Basic information
    Official symbolNPHP4
    Official full namenephronophthisis 4
    Location1p36
    Gene typeprotein-coding
    SynonymsPOC10|SLSN4
    Quick linksEntrez ID:261734; HGNC:19104; MIM:607215; Ensembl:ENSG00000131697; HPRD:06238; Vega:OTTHUMG00000000701
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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:0009416response to light stimulus203292.5311.481.06e-225.41e-21
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0009314response to radiation319293.977.313.46e-171.35e-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: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
    chr159218696053533606966Nephronophthisis 436072151p36.31
    chr159218696053533606996Senior-Loken syndrome 436072151p36.31
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr159218696053533261734Nphp4MGI:2384210MP:0001186pigmentation phenotype
    chr159218696053533261734Nphp4MGI:2384210MP:0003631nervous system phenotype
    chr159218696053533261734Nphp4MGI:2384210MP:0005367renal/urinary system phenotype
    chr159218696053533261734Nphp4MGI:2384210MP:0005384cellular phenotype
    chr159218696053533261734Nphp4MGI:2384210MP:0005385cardiovascular system phenotype
    chr159218696053533261734Nphp4MGI:2384210MP:0005389reproductive system phenotype
    chr159218696053533261734Nphp4MGI:2384210MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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