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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 DHDDS






    Basic information
    Official symbolDMD
    Official full namedystrophin
    LocationXp21.2
    Gene typeprotein-coding
    SynonymsBMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272
    Quick linksEntrez ID:1756; HGNC:2928; MIM:300377; Ensembl:ENSG00000198947; HPRD:02303; Vega:OTTHUMG00000021336
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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: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:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGG7430.339.010.00460.0158
    Hypertrophic cardiomyopathy (HCM)KEGG8330.378.040.00630.0168
    Dilated cardiomyopathyKEGG9030.407.410.00790.0190
    Arrhythmogenic right ventricular cardiomyopathyWIKI10830.496.180.01300.0357
    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
    chrX3113634432174586300376Becker muscular dystrophy3300377Xp21.2-p21.1
    chrX3113634432174586302045"Cardiomyopathy, dilated, 3B"3300377Xp21.2-p21.1
    chrX3113634432174586310200Duchenne muscular dystrophy3300377Xp21.2-p21.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chrX31136344321745861756DmdMGI:94909MP:0002873normal phenotype
    chrX31136344321745861756DmdMGI:94909MP:0003012no phenotypic analysis
    chrX31136344321745861756DmdMGI:94909MP:0003631nervous system phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005367renal/urinary system phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005369muscle phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005370liver/biliary system phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005371limbs/digits/tail phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005375adipose tissue phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005376homeostasis/metabolism phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005377hearing/vestibular/ear phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005378growth/size phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005379endocrine/exocrine gland phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005381digestive/alimentary phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005384cellular phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005385cardiovascular system phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005386behavior/neurological phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005387immune system phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005388respiratory system phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005389reproductive system phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005390skeleton phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005391vision/eye phenotype
    chrX31136344321745861756DmdMGI:94909MP:0005397hematopoietic system phenotype
    chrX31136344321745861756DmdMGI:94909MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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