Quick Search:

  • Top 5 genes

    Top 5 diseases

    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4570
    • SNVs : 3402
    • InDels : 1168
    • Last Update : 07/03/2016

    Gene ontology analysis






    Click here to see GO map

    Biological process
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of entrichmentP-ValueAdjusted P-ValueGenes related
    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:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    GO:0009583detection of light stimulus47240.5841.054.99e-347.32e-32
    GO:0043954cellular component maintenance38220.4746.546.20e-338.09e-31
    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:0060271cilium morphogenesis97251.2120.722.04e-261.26e-24
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0007602phototransduction37180.4639.113.11e-251.74e-23
    GO:0042384cilium assembly75210.9322.513.56e-231.90e-21
    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:0010927cellular component assembly involved in morphogenesis137221.7012.911.49e-186.03e-17
    GO:0009314response to radiation319293.977.313.46e-171.35e-15
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    ALMS1|FAM161A |
    GO:0030031cell projection assembly204242.549.466.34e-172.33e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    PROM1|TIMP3|TMEM237|NDP|SEMA4A|CRX|VCAN|SDCCAG8|OFD1|FAM161A |
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-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:0000902cell morphogenesis9454211.763.572.49e-137.69e-12
    GO:0048593camera-type eye morphogenesis90151.1213.403.00e-139.03e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    Cellular component
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of entrichmentP-ValueAdjusted P-ValueGenes related
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0031513nonmotile primary cilium80320.8736.671.40e-421.37e-40
    GO:0072372primary cilium96331.0531.522.93e-411.91e-39
    GO:0044441cilium part110291.2024.171.90e-329.31e-31
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    PROM1|TMEM237|WDR19|OFD1|C2orf71|NPHP1|FAM161A |
    GO:0001750photoreceptor outer segment37190.4047.083.03e-289.90e-27
    GO:0005932microtubule basal body66200.7227.785.27e-241.48e-22
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0034464BBSome990.1091.681.80e-183.92e-17
    GO:0032391photoreceptor connecting cilium23120.2547.832.41e-184.72e-17
    GO:0005815microtubule organizing center486315.305.851.61e-152.87e-14
    GO:0001917photoreceptor inner segment20100.2245.843.14e-155.13e-14
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0042622photoreceptor outer segment membrane860.0968.764.27e-115.98e-10
    GO:0032420stereocilium2380.2531.897.34e-119.59e-10
    GO:0060170cilium membrane2580.2729.341.59e-101.83e-09
    GO:0005813centrosome376224.105.361.49e-101.83e-09
    GO:0032421stereocilium bundle2780.2927.173.20e-103.48e-09
    GO:0005902microvillus68100.7413.483.14e-093.24e-08
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005930axoneme70100.7613.104.21e-093.93e-08
    GO:0035085cilium axoneme5290.5715.874.42e-093.94e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    GO:0031514motile cilium1250.1338.201.09e-078.90e-07
    GO:0035869ciliary transition zone1650.1728.655.80e-074.55e-06
    GO:0044450microtubule organizing center part9491.038.788.63e-076.51e-06
    GO:0005814centriole5970.6410.883.47e-062.52e-05
    GO:0002139stereocilia coupling link430.0468.765.07e-063.31e-05
    GO:0002141stereocilia ankle link430.0468.765.07e-063.31e-05
    GO:0002142stereocilia ankle link complex430.0468.765.07e-063.31e-05
    GO:0036038TCTN-B9D complex1240.1330.566.33e-064.00e-05
    GO:0031253cell projection membrane187112.045.396.65e-064.07e-05
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    GO:0005682U5 snRNP630.0745.842.49e-050.0001
    GO:0005578proteinaceous extracellular matrix360143.933.574.22e-050.0002
    GO:0030532small nuclear ribonucleoprotein complex3350.3613.892.71e-050.0002
    GO:0036064cilium basal body830.0934.386.87e-050.0004
    GO:0031012extracellular matrix426154.653.236.94e-050.0004
    GO:0071001U4/U6 snRNP320.0361.120.00040.0020
    GO:0046540U4/U6 x U5 tri-snRNP complex420.0445.840.00070.0034
    Molecular Function
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of entrichmentP-ValueAdjusted P-ValueGenes related
    GO:0030553cGMP binding1260.1344.951.52e-093.30e-07
    GO:0009881photoreceptor activity1560.1735.967.98e-098.66e-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:0008020G-protein coupled photoreceptor activity630.0744.952.64e-050.0008
    GO:0019841retinol binding1230.1322.480.00030.0072
    GO:0016918retinal binding1230.1322.480.00030.0072
    GO:0032561guanyl ribonucleotide binding392134.362.980.00040.0079
    GO:0019001guanyl nucleotide binding392134.362.980.00040.0079
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005501retinoid binding3540.3910.270.00060.0100
    GO:0019840isoprenoid binding3740.419.720.00070.0109
    GO:0019842vitamin binding13771.524.590.00090.0130
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0008048calcium sensitive guanylate cyclase activator activity520.0635.960.00120.0153
    GO:0005509calcium ion binding668177.432.290.00130.0157
    GO:0010853cyclase activator activity620.0729.970.00180.0170
    GO:0042813Wnt-activated receptor activity2130.2312.840.00160.0170
    GO:0030250guanylate cyclase activator activity620.0729.970.00180.0170
    GO:0030020extracellular matrix structural constituent conferring tensile strength620.0729.970.00180.0170
    GO:0005201extracellular matrix structural constituent7850.875.760.00180.0170
    GO:0030249guanylate cyclase regulator activity720.0825.690.00250.0226
    GO:0043522leucine zipper domain binding820.0922.480.00330.0275
    GO:0010851cyclase regulator activity820.0922.480.00330.0275
    GO:0008081phosphoric diester hydrolase activity9551.064.730.00420.0304
    GO:0043855cyclic nucleotide-gated ion channel activity920.1019.980.00420.0304
    GO:0005221intracellular cyclic nucleotide activated cation channel activity920.1019.980.00420.0304
    GO:0017022myosin binding2930.329.300.00400.0304
    GO:0043168anion binding24024026.721.500.00480.0336