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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 IMPDH1






    Basic information
    Official symbolIMPDH1
    Official full nameIMP (inosine 5'-monophosphate) dehydrogenase 1
    Location7q31.3-q32
    Gene typeprotein-coding
    SynonymsIMPD|IMPD1|LCA11|RP10|sWSS2608
    Quick linksEntrez ID:3614; HGNC:6052; MIM:146690; Ensembl:ENSG00000106348; HPRD:08853; Vega:OTTHUMG00000157713
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Purine metabolismKEGG16270.739.619.46e-060.0001
    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
    chr7128031330128051036613837Leber congenital amaurosis 1131466907q32.1
    chr7128031330128051036180105Retinitis pigmentosa 1031466907q32.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr71280313301280510363614Impdh1MGI:96567MP:0005384cellular phenotype
    chr71280313301280510363614Impdh1MGI:96567MP:0005387immune system phenotype
    chr71280313301280510363614Impdh1MGI:96567MP:0005397hematopoietic system phenotype
    Mutation spectrum

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    Gene-disease network

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