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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 NDP






    Basic information
    Official symbolNDP
    Official full nameNorrie disease (pseudoglioma)
    LocationXp11.4
    Gene typeprotein-coding
    SynonymsEVR2|FEVR|ND
    Quick linksEntrez ID:4693; HGNC:7678; MIM:300658; Ensembl:ENSG00000124479; HPRD:02404; Vega:OTTHUMG00000021391
    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: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:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-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:0031012extracellular matrix426154.653.236.94e-050.0004
    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
    Hsapiens_Module_293340.3411.800.00030.0022
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chrX4380702343833921305390"Exudative vitreoretinopathy, X-linked"3300658Xp11.3
    chrX4380702343833921310600Norrie disease3300658Xp11.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chrX43807023438339214693NdpMGI:102570MP:0001186pigmentation phenotype
    chrX43807023438339214693NdpMGI:102570MP:0003012no phenotypic analysis
    chrX43807023438339214693NdpMGI:102570MP:0003631nervous system phenotype
    chrX43807023438339214693NdpMGI:102570MP:0005377hearing/vestibular/ear phenotype
    chrX43807023438339214693NdpMGI:102570MP:0005385cardiovascular system phenotype
    chrX43807023438339214693NdpMGI:102570MP:0005386behavior/neurological phenotype
    chrX43807023438339214693NdpMGI:102570MP:0005389reproductive system phenotype
    chrX43807023438339214693NdpMGI:102570MP:0005390skeleton phenotype
    chrX43807023438339214693NdpMGI:102570MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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