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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 CERKL






    Basic information
    Official symbolCFH
    Official full namecomplement factor H
    Location1q32
    Gene typeprotein-coding
    SynonymsAHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS
    Quick linksEntrez ID:3075; HGNC:4883; MIM:134370; Ensembl:ENSG00000000971; HPRD:00601; Vega:OTTHUMG00000035607
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    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
    chr1196620007196671695126700Basal laminar drusen31343701q31.3
    chr1196620007196671695609814Complement factor H deficiency31343701q31.3
    chr1196620007196671695235400"{Hemolytic uremic syndrome, atypical, susceptibility to, 1}"31343701q31.3
    chr1196620007196671695610698"{Macular degeneration, age-related, 4}"31343701q31.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr11966200071966716953075CfhMGI:88385MP:0002873normal phenotype
    chr11966200071966716953075CfhMGI:88385MP:0005367renal/urinary system phenotype
    chr11966200071966716953075CfhMGI:88385MP:0005376homeostasis/metabolism phenotype
    chr11966200071966716953075CfhMGI:88385MP:0005385cardiovascular system phenotype
    chr11966200071966716953075CfhMGI:88385MP:0005387immune system phenotype
    chr11966200071966716953075CfhMGI:88385MP:0005397hematopoietic system phenotype
    chr11966200071966716953075CfhMGI:88385MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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