Quick Search:

  • Top 5 genes

    Top 5 diseases

    Data summary

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

    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

    If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.

    Gene-disease network

    If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.


    Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.