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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 NPHP1






    Basic information
    Official symbolNPHP1
    Official full namenephronophthisis 1 (juvenile)
    Location2q13
    Gene typeprotein-coding
    SynonymsJBTS4|NPH1|SLSN1
    Quick linksEntrez ID:4867; HGNC:7905; MIM:607100; Ensembl:ENSG00000144061; HPRD:02019; Vega:09524
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0003008system process169510821.095.121.12e-542.63e-52
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    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:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0032391photoreceptor connecting cilium23120.2547.832.41e-184.72e-17
    GO:0005930axoneme70100.7613.104.21e-093.93e-08
    GO:0035085cilium axoneme5290.5715.874.42e-093.94e-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
    chr2110879913110963639609583Joubert syndrome 436071002q13
    chr2110879913110963639256100"Nephronophthisis 1, juvenile"36071002q13
    chr2110879913110963639266900Senior-Loken syndrome-136071002q13
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr21108799131109636394867Nphp1MGI:1858233MP:0003012no phenotypic analysis
    chr21108799131109636394867Nphp1MGI:1858233MP:0005367renal/urinary system phenotype
    chr21108799131109636394867Nphp1MGI:1858233MP:0005379endocrine/exocrine gland phenotype
    chr21108799131109636394867Nphp1MGI:1858233MP:0005389reproductive system phenotype
    chr21108799131109636394867Nphp1MGI:1858233MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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