AutismKB 2.0

Annotation Detail for NLRP5


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Basic Information Top
Gene Symbol:NLRP5 ( CLR19.8,MATER,NALP5,PAN11,PYPAF8 )
Gene Full Name: NLR family, pyrin domain containing 5
Band: 19q13.43
Quick LinksEntrez ID:126206; OMIM: 609658; Uniprot ID:NALP5_HUMAN; ENSEMBL ID: ENSG00000171487; HGNC ID: 21269
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA162397970
    • No data
    Releated disease ID Related disease Name
    PA444576Hypoparathyroidism
    PA446409Polyendocrinopathies, Autoimmune
    No data
    Drug Bank Top

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    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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