Quick Search:

  • Top 5 genes

    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 DFNB31






    Basic information
    Official symbolDHDDS
    Official full namedehydrodolichyl diphosphate synthase
    Location1p36.11
    Gene typeprotein-coding
    SynonymsCIT|CPT|DS|HDS|RP59
    Quick linksEntrez ID:79947; HGNC:20603; MIM:608172; Ensembl:ENSG00000117682; HPRD:12183; Vega:OTTHUMG00000003554
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Terpenoid backbone biosynthesisKEGG1520.0729.640.00200.0080
    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
    chr12675777226798795613861Retinitis pigmentosa 5936081721p36.11
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1267577722679879579947DhddsMGI:1914672--
    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.