AutismKB 2.0

Annotation Detail for C17orf53


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Basic Information Top
Gene Symbol:C17orf53 ( FLJ11594,MGC3130 )
Gene Full Name: chromosome 17 open reading frame 53
Band: 17q21.31
Quick LinksEntrez ID:78995; OMIM: NA; Uniprot ID:CQ053_HUMAN; ENSEMBL ID: ENSG00000125319; HGNC ID: 28460
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
Bone mineral density (hip)
METABOLIC
No data
No data
Comparative Toxicogenomics Database Top
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA142672236
    • No data
    Releated disease ID Related disease Name
    PA443532Bone Diseases
    PA443536Bone Diseases, Metabolic
    No data
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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