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  • Top 5 genes

    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 CNGA3






    Basic information
    Official symbolCDH3
    Official full namecadherin 3, type 1, P-cadherin (placental)
    Location16q22.1
    Gene typeprotein-coding
    SynonymsCDHP|HJMD|PCAD
    Quick linksEntrez ID:1001; HGNC:1762; MIM:114021; Ensembl:ENSG00000062038; HPRD:00227; Vega:OTTHUMG00000137560
    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: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:0005488binding11955150132.971.130.00050.0090
    GO:0005509calcium ion binding668177.432.290.00130.0157
    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
    chr166867715068733957225280"Ectodermal dysplasia, ectrodactyly, and macular dystrophy"311402116q22.1
    chr166867715068733957601553"Hypotrichosis, congenital, with juvenile macular dystrophy"311402116q22.1
    chr166867715068733957612580"Mental retardation, autosomal dominant 3"311401916q24.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1668677150687339571001Cdh3MGI:88356MP:0005379endocrine/exocrine gland phenotype
    chr1668677150687339571001Cdh3MGI:88356MP:0010771integument phenotype
    Mutation spectrum

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    Gene-disease network

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