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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 ABCA4






    Basic information
    Official symbol ABCA4
    Official full name ATP-binding cassette, sub-family A (ABC1), member 4
    Location 1p22
    Gene type protein-coding
    Synonyms ABC10|ABCR|ARMD2|CORD3|FFM|RMP|RP19|STGD|STGD1
    Quick links Entrez ID:24; HGNC:34; MIM:601691; Ensembl:ENSG00000198691; HPRD:03408; Vega:OTTHUMG00000010622
    GO related
    GO term accession GO term name Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-Value
    GO:0050953 sensory perception of light stimulus 205 100 2.55 39.21 8.72e-146 1.02e-142
    GO:0007601 visual perception 204 99 2.54 39.01 7.39e-144 4.34e-141
    GO:0007600 sensory perception 495 103 6.16 16.73 4.54e-105 1.78e-102
    GO:0050877 neurological system process 1237 106 15.39 6.89 1.82e-66 5.34e-64
    GO:0003008 system process 1695 108 21.09 5.12 1.12e-54 2.63e-52
    GO:0044707 single-multicellular organism process 5612 143 69.81 2.05 9.21e-29 7.72e-27
    GO:0032501 multicellular organismal process 5644 143 70.21 2.04 1.83e-28 1.43e-26
    GO:0007602 phototransduction 37 18 0.46 39.11 3.11e-25 1.74e-23
    GO:0009416 response to light stimulus 203 29 2.53 11.48 1.06e-22 5.41e-21
    GO:0044699 single-organism process 7682 152 95.57 1.59 9.26e-19 3.88e-17
    GO:0009314 response to radiation 319 29 3.97 7.31 3.46e-17 1.35e-15
    GO:0007603 phototransduction, visible light 11 9 0.14 65.77 3.15e-16 1.03e-14
    GO:0005488 binding 11955 150 132.97 1.13 0.0005 0.0090
    GO:0043168 anion binding 2402 40 26.72 1.50 0.0048 0.0336
    GO:0044459 plasma membrane part 1918 41 20.92 1.96 1.68e-05 9.98e-05
    Pathway related
    Term Surce Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-value
    ABC-family proteins mediated transport Pathway commons 25 2 0.11 17.78 0.0056 0.0267
    ABC transporters KEGG 44 2 0.20 10.10 0.0168 0.0367
    PPI related
    ID Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-value
    OMIM related
    chromosome begin end disorder MIM number disorder phene mapping key gene/locus MIM number cytogenetic loaction
    chr1 94457393 94587705 604116 Cone-rod dystrophy 3 3 601691 1p22.1
    chr1 94457393 94587705 248200 Fundus flavimaculatus 3 601691 1p22.1
    chr1 94457393 94587705 153800 "Macular degeneration, age-related, 2" 3 601691 1p22.1
    chr1 94457393 94587705 248200 "Retinal dystrophy, early-onset severe" 3 601691 1p22.1
    chr1 94457393 94587705 601718 Retinitis pigmentosa 19 3 601691 1p22.1
    chr1 94457393 94587705 248200 Stargardt disease 1 3 601691 1p22.1
    MGI related
    chromosome begin end gene ID gene symbol of mouse MGI MP phenotype description
    chr1 94457393 94587705 24 Abca4 MGI:109424 MP:0001186 pigmentation phenotype
    chr1 94457393 94587705 24 Abca4 MGI:109424 MP:0003012 no phenotypic analysis
    chr1 94457393 94587705 24 Abca4 MGI:109424 MP:0003631 nervous system phenotype
    chr1 94457393 94587705 24 Abca4 MGI:109424 MP:0005376 homeostasis/metabolism phenotype
    chr1 94457393 94587705 24 Abca4 MGI:109424 MP:0005385 cardiovascular system phenotype
    chr1 94457393 94587705 24 Abca4 MGI:109424 MP:0005391 vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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