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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 PDE6C






    Basic information
    Official symbolPDE6C
    Official full namephosphodiesterase 6C, cGMP-specific, cone, alpha prime
    Location10q24
    Gene typeprotein-coding
    SynonymsACHM5|COD4|PDEA2
    Quick linksEntrez ID:5146; HGNC:8787; MIM:600827; Ensembl:ENSG00000095464; HPRD:02898; Vega:OTTHUMG00000018775
    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:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    GO:0009583detection of light stimulus47240.5841.054.99e-347.32e-32
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0009582detection of abiotic stimulus83271.0326.151.40e-311.49e-29
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    GO:0009581detection of external stimulus100271.2421.704.42e-293.99e-27
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0046530photoreceptor cell differentiation41200.5139.215.82e-284.27e-26
    GO:0042461photoreceptor cell development30180.3748.231.64e-271.13e-25
    GO:0009584detection of visible light22160.2758.461.18e-267.70e-25
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0007602phototransduction37180.4639.113.11e-251.74e-23
    GO:0009416response to light stimulus203292.5311.481.06e-225.41e-21
    GO:0001754eye photoreceptor cell differentiation34160.4237.833.06e-221.50e-20
    GO:0048592eye morphogenesis126241.5715.315.38e-222.53e-20
    GO:0042462eye photoreceptor cell development25140.3145.025.07e-212.29e-19
    GO:0051606detection of stimulus202272.5110.742.10e-209.13e-19
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0009314response to radiation319293.977.313.46e-171.35e-15
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0060042retina morphogenesis in camera-type eye37130.4628.243.05e-161.02e-14
    GO:0007603phototransduction, visible light1190.1465.773.15e-161.03e-14
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0048593camera-type eye morphogenesis90151.1213.403.00e-139.03e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0030553cGMP binding1260.1344.951.52e-093.30e-07
    GO:00475553',5'-cyclic-GMP phosphodiesterase activity1050.1144.953.87e-082.80e-06
    GO:0030551cyclic nucleotide binding2860.3119.275.33e-072.89e-05
    GO:00041143',5'-cyclic-nucleotide phosphodiesterase activity2450.2718.735.75e-060.0002
    GO:0004112cyclic-nucleotide phosphodiesterase activity2550.2817.987.12e-060.0003
    GO:0032561guanyl ribonucleotide binding392134.362.980.00040.0079
    GO:0019001guanyl nucleotide binding392134.362.980.00040.0079
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0008081phosphoric diester hydrolase activity9551.064.730.00420.0304
    GO:0043168anion binding24024026.721.500.00480.0336
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Visual signal transduction: ConesPathway commons23150.10144.981.71e-308.81e-29
    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
    chr109537134495426429613093Cone dystrophy 4360082710q23.33
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1095371344954264295146Pde6cMGI:105956MP:0003631nervous system phenotype
    chr1095371344954264295146Pde6cMGI:105956MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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