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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for RDH12






    Basic information
    Official symbolRDH12
    Official full nameretinol dehydrogenase 12 (all-trans/9-cis/11-cis)
    Location14q24.1
    Gene typeprotein-coding
    SynonymsLCA13|LCA3|RP53|SDR7C2
    Quick linksEntrez ID:145226; HGNC:19977; MIM:608830; Ensembl:ENSG00000139988; HPRD:10585; Vega:OTTHUMG00000170032
    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:0045494photoreceptor cell maintenance25220.3170.747.36e-401.44e-37
    GO:0043954cellular component maintenance38220.4746.546.20e-338.09e-31
    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
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Visual signal transduction: RodsPathway commons24170.11157.472.08e-352.14e-33
    Visual signal transduction: ConesPathway commons23150.10144.981.71e-308.81e-29
    Retinol metabolismKEGG6440.2913.890.00020.0010
    Vitamin A and carotenoid metabolismWIKI4960.2227.229.13e-081.00e-06
    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
    chr146816760268202168612712Leber congenital amaurosis 13360883014q24.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr146816760268202168145226Rdh12MGI:1925224MP:0003631nervous system phenotype
    chr146816760268202168145226Rdh12MGI:1925224MP:0005384cellular phenotype
    chr146816760268202168145226Rdh12MGI:1925224MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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