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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 INVS






    Basic information
    Official symbolINVS
    Official full nameinversin
    Location9q31
    Gene typeprotein-coding
    SynonymsINV|NPH2|NPHP2
    Quick linksEntrez ID:27130; HGNC:17870; MIM:243305; Ensembl:ENSG00000119509; HPRD:08356; Vega:OTTHUMG00000020364
    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:0044699single-organism process768215295.571.599.26e-193.88e-17
    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:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    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
    chr9102860501103064426602088"Nephronophthisis 2, infantile"32433059q31.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr910286050110306442627130InvsMGI:1335082MP:0005367renal/urinary system phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005370liver/biliary system phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005376homeostasis/metabolism phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005378growth/size phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005379endocrine/exocrine gland phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005380embryogenesis phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005381digestive/alimentary phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005385cardiovascular system phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005387immune system phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005388respiratory system phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0005397hematopoietic system phenotype
    chr910286050110306442627130InvsMGI:1335082MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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