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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for COL11A1






    Basic information
    Official symbolCOL2A1
    Official full namecollagen, type II, alpha 1
    Location12q13.11
    Gene typeprotein-coding
    SynonymsANFH|AOM|COL11A3|SEDC
    Quick linksEntrez ID:1280; HGNC:2200; MIM:120140; Ensembl:ENSG00000139219; HPRD:00361; Vega:OTTHUMG00000149896
    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: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:0005515protein binding733710281.611.250.00110.0149
    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
    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
    chr124836574748399285200610"Achondrogenesis, type II or hypochondrogenesis"312014012q13.11
    chr124836574748399285608805Avascular necrosis of the femoral head312014012q13.11
    chr124836574748399285609162Czech dysplasia-12014012q13.11
    chr124836574748399285132450"Epiphyseal dysplasia, multiple, with myopia and deafness"312014012q13.11
    chr124836574748399285156550Kniest dysplasia312014012q13.11
    chr124836574748399285150600Legg-Calve-Perthes disease312014012q13.11
    chr124836574748399285604864Osteoarthritis with mild chondrodysplasia312014012q13.11
    chr124836574748399285215150Otospondylomegaepiphyseal dysplasia312014012q13.11
    chr124836574748399285151210"Platyspondylic skeletal dysplasia, Torrance type"312014012q13.11
    chr124836574748399285183900SED congenita312014012q13.11
    chr124836574748399285-"SED, Namaqualand type"312014012q13.11
    chr124836574748399285184250SMED Strudwick type312014012q13.11
    chr124836574748399285271700Spondyloperipheral dysplasia312014012q13.11
    chr124836574748399285609508"Stickler sydrome, type I, nonsyndromic ocular"312014012q13.11
    chr124836574748399285108300"Stickler syndrome, type I"312014012q13.11
    chr124836574748399285-Vitreoretinopathy with phalangeal epiphyseal dysplasia312014012q13.11
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1248365747483992851280Col2a1MGI:88452MP:0002873normal phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0003631nervous system phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005367renal/urinary system phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005370liver/biliary system phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005371limbs/digits/tail phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005375adipose tissue phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005377hearing/vestibular/ear phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005378growth/size phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005380embryogenesis phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005381digestive/alimentary phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005382craniofacial phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005385cardiovascular system phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005386behavior/neurological phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005387immune system phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005388respiratory system phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005390skeleton phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0005391vision/eye phenotype
    chr1248365747483992851280Col2a1MGI:88452MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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