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    Data summary

    • Publications : 1001
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4631
    • SNVs : 3422
    • InDels : 1209
    • Last Update : 22/02/2019

    Detailed information for HMCN1






    Basic information
    Official symbolHMCN1
    Official full namehemicentin 1
    Location1q25.3-q31.1
    Gene typeprotein-coding
    SynonymsARMD1|FBLN6|FIBL-6|FIBL6
    Quick linksEntrez ID:83872; HGNC:19194; MIM:608548; Ensembl:ENSG00000143341; HPRD:06509; Vega:OTTHUMG00000059337
    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:0005488binding11955150132.971.130.00050.0090
    GO:0005509calcium ion binding668177.432.290.00130.0157
    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
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr1185702682186161085603075"{Macular degeneration, age-related, 1}"36085481q25.3-q31.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr118570268218616108583872Hmcn1MGI:2685047--
    Mutation spectrum

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    Gene-disease network

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