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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 PHYH






    Basic information
    Official symbolPHYH
    Official full namephytanoyl-CoA 2-hydroxylase
    Location10p13
    Gene typeprotein-coding
    SynonymsLN1|LNAP1|PAHX|PHYH1|RD
    Quick linksEntrez ID:5264; HGNC:8940; MIM:602026; Ensembl:ENSG00000107537; HPRD:03609; Vega:OTTHUMG00000017693
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0019842vitamin binding13771.524.590.00090.0130
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0043168anion binding24024026.721.500.00480.0336
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PeroxisomeKEGG7950.3614.073.01e-050.0002
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Hsapiens_Module_26697167.162.240.00220.0114
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr101331879513342746266500Refsum disease360202610p13
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1013318795133427465264PhyhMGI:891978MP:0003631nervous system phenotype
    chr1013318795133427465264PhyhMGI:891978MP:0005370liver/biliary system phenotype
    chr1013318795133427465264PhyhMGI:891978MP:0005375adipose tissue phenotype
    chr1013318795133427465264PhyhMGI:891978MP:0005376homeostasis/metabolism phenotype
    chr1013318795133427465264PhyhMGI:891978MP:0005378growth/size phenotype
    chr1013318795133427465264PhyhMGI:891978MP:0005386behavior/neurological phenotype
    chr1013318795133427465264PhyhMGI:891978MP:0005387immune system phenotype
    chr1013318795133427465264PhyhMGI:891978MP:0005389reproductive system phenotype
    Mutation spectrum

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    Gene-disease network

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