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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 ABCC6






    Basic information
    Official symbolABCC6
    Official full nameATP-binding cassette, sub-family C (CFTR/MRP), member 6
    Location16p13.1
    Gene typeprotein-coding
    SynonymsABC34|ARA|EST349056|GACI2|MLP1|MOAT-E|MOATE|MRP6|PXE|PXE1|URG7
    Quick linksEntrez ID:368; HGNC:57; MIM:603234; Ensembl:ENSG00000091262; HPRD:04453; Vega:OTTHUMG00000129967
    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:0043168anion binding24024026.721.500.00480.0336
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    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
    chr161631404316318328614473"Arterial calcification, generalized, of infancy, 2"360323416p13.11
    chr161631404316318328264800Pseudoxanthoma elasticum360323416p13.11
    chr161631404316318328177850"Pseudoxanthoma elasticum, forme fruste"360323416p13.11
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr161631404316318328368Abcc6MGI:1351634MP:0005367renal/urinary system phenotype
    chr161631404316318328368Abcc6MGI:1351634MP:0005376homeostasis/metabolism phenotype
    chr161631404316318328368Abcc6MGI:1351634MP:0005385cardiovascular system phenotype
    chr161631404316318328368Abcc6MGI:1351634MP:0005391vision/eye phenotype
    chr161631404316318328368Abcc6MGI:1351634MP:0005395other phenotype
    chr161631404316318328368Abcc6MGI:1351634MP:0010771integument phenotype
    Mutation spectrum

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    Gene-disease network

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