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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 DMD






    Basic information
    Official symbolCOL9A1
    Official full namecollagen, type IX, alpha 1
    Location6q13
    Gene typeprotein-coding
    SynonymsDJ149L1.1.2|EDM6|MED|STL4
    Quick linksEntrez ID:1297; HGNC:2217; MIM:120210; Ensembl:ENSG00000112280; HPRD:00367; Vega:OTTHUMG00000014988
    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:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0000902cell morphogenesis9454211.763.572.49e-137.69e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0030020extracellular matrix structural constituent conferring tensile strength620.0729.970.00180.0170
    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
    Hsapiens_Module_582920.0921.640.00360.0156
    Hsapiens_Module_2631820.1810.820.01440.0440
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr67092474270993911614135"Epiphyseal dysplasia, multiple, 6"31202106q13
    chr67092474270993911614134"Stickler syndrome, type IV"31202106q13
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr670924742709939111297Col9a1MGI:88465MP:0005371limbs/digits/tail phenotype
    chr670924742709939111297Col9a1MGI:88465MP:0005376homeostasis/metabolism phenotype
    chr670924742709939111297Col9a1MGI:88465MP:0005377hearing/vestibular/ear phenotype
    chr670924742709939111297Col9a1MGI:88465MP:0005387immune system phenotype
    chr670924742709939111297Col9a1MGI:88465MP:0005390skeleton phenotype
    chr670924742709939111297Col9a1MGI:88465MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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