Quick Search:

  • Top 5 genes

    Top 5 diseases

    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for CNNM4






    Basic information
    Official symbolCOL11A1
    Official full namecollagen, type XI, alpha 1
    Location1p21
    Gene typeprotein-coding
    SynonymsCO11A1|COLL6|STL2
    Quick linksEntrez ID:1301; HGNC:2186; MIM:120280; Ensembl:ENSG00000060718; HPRD:00375; Vega:OTTHUMG00000010872
    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:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0009582detection of abiotic stimulus83271.0326.151.40e-311.49e-29
    GO:0009581detection of external stimulus100271.2421.704.42e-293.99e-27
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0051606detection of stimulus202272.5110.742.10e-209.13e-19
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    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:0005201extracellular matrix structural constituent7850.875.760.00180.0170
    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
    Protein digestion and absorptionKEGG8130.368.230.00590.0168
    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
    chr1103341022103575052228520Fibrochondrogenesis31202801p21.1
    chr1103341022103575052154780Marshall syndrome31202801p21.1
    chr1103341022103575052604841"Stickler syndrome, type II"31202801p21.1
    chr1103341022103575052603932"{Lumbar disc herniation, susceptibility to}"31202801p21.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr11033410221035750521301Col11a1MGI:88446MP:0003631nervous system phenotype
    chr11033410221035750521301Col11a1MGI:88446MP:0005371limbs/digits/tail phenotype
    chr11033410221035750521301Col11a1MGI:88446MP:0005377hearing/vestibular/ear phenotype
    chr11033410221035750521301Col11a1MGI:88446MP:0005381digestive/alimentary phenotype
    chr11033410221035750521301Col11a1MGI:88446MP:0005382craniofacial phenotype
    chr11033410221035750521301Col11a1MGI:88446MP:0005387immune system phenotype
    chr11033410221035750521301Col11a1MGI:88446MP:0005388respiratory system phenotype
    chr11033410221035750521301Col11a1MGI:88446MP:0005390skeleton phenotype
    chr11033410221035750521301Col11a1MGI:88446MP:0010768mortality/aging
    Mutation spectrum

    If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.

    Gene-disease network

    If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.


    Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.