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    Data summary

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

    Detailed information for RLBP1






    Basic information
    Official symbolRLBP1
    Official full nameretinaldehyde binding protein 1
    Location15q26
    Gene typeprotein-coding
    SynonymsCRALBP
    Quick linksEntrez ID:6017; HGNC:10024; MIM:180090; Ensembl:ENSG00000140522; HPRD:01572; Vega:OTTHUMG00000172884
    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
    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
    chr158975209789765922607475Bothnia retinal dystrophy318009015q26.1
    chr158975209789765922136880Fundus albipunctatus318009015q26.1
    chr158975209789765922607476Newfoundland rod-cone dystrophy318009015q26.1
    chr158975209789765922136880Retinitis punctata albescens318009015q26.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1589752097897659226017Rlbp1MGI:97930MP:0001186pigmentation phenotype
    chr1589752097897659226017Rlbp1MGI:97930MP:0003631nervous system phenotype
    chr1589752097897659226017Rlbp1MGI:97930MP:0005391vision/eye phenotype
    chr1589752097897659226017Rlbp1MGI:97930MP:0010771integument phenotype
    Mutation spectrum

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    Gene-disease network

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