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    Data summary

    • Publications : 1001
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4631
    • SNVs : 3422
    • InDels : 1209
    • Last Update : 22/02/2019

    Detailed information for C1QTNF5






    Basic information
    Official symbolC1QTNF5
    Official full nameC1q and tumor necrosis factor related protein 5
    Location11q23.3
    Gene typeprotein-coding
    SynonymsCTRP5
    Quick linksEntrez ID:114902; HGNC:14344; MIM:608752; Ensembl:ENSG00000223953; HPRD:10575; Vega:
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005578proteinaceous extracellular matrix360143.933.574.22e-050.0002
    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
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr11119208651119218383605670"Retinal degeneration, late-onset, autosomal dominant"360875211q23.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr11119208651119218383114902C1qtnf5MGI:2385958MP:0001186pigmentation phenotype
    chr11119208651119218383114902C1qtnf5MGI:2385958MP:0002873normal phenotype
    chr11119208651119218383114902C1qtnf5MGI:2385958MP:0003631nervous system phenotype
    chr11119208651119218383114902C1qtnf5MGI:2385958MP:0005385cardiovascular system phenotype
    chr11119208651119218383114902C1qtnf5MGI:2385958MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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