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    Data summary

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

    Detailed information for COL2A1






    Basic information
    Official symbolCHM
    Official full namechoroideremia (Rab escort protein 1)
    LocationXq21.2
    Gene typeprotein-coding
    SynonymsDXS540|GGTA|HSD-32|REP-1|TCD
    Quick linksEntrez ID:1121; HGNC:1940; MIM:300390; Ensembl:ENSG00000188419; HPRD:02312; Vega:06563
    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: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
    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
    chrX8511518485303566607791"Charcot-Marie-Tooth disease, dominant intermediate D"31594401q23.3
    chrX8511518485303566118200"Charcot-Marie-Tooth disease, type 1B"31594401q23.3
    chrX8511518485303566607677"Charcot-Marie-Tooth disease, type 2I"31594401q23.3
    chrX8511518485303566607736"Charcot-Marie-Tooth disease, type 2J"31594401q23.3
    chrX8511518485303566303100Choroideremia3300390Xq21.2
    chrX8511518485303566145900Dejerine-Sottas disease31594401q23.3
    chrX8511518485303566605253"Neuropathy, congenital hypomyelinating"31594401q23.3
    chrX8511518485303566180800Roussy-Levy syndrome31594401q23.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chrX85115184853035661121ChmMGI:892979MP:0001186pigmentation phenotype
    chrX85115184853035661121ChmMGI:892979MP:0002873normal phenotype
    chrX85115184853035661121ChmMGI:892979MP:0003631nervous system phenotype
    chrX85115184853035661121ChmMGI:892979MP:0005376homeostasis/metabolism phenotype
    chrX85115184853035661121ChmMGI:892979MP:0005378growth/size phenotype
    chrX85115184853035661121ChmMGI:892979MP:0005380embryogenesis phenotype
    chrX85115184853035661121ChmMGI:892979MP:0005385cardiovascular system phenotype
    chrX85115184853035661121ChmMGI:892979MP:0005391vision/eye phenotype
    chrX85115184853035661121ChmMGI:892979MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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