AutismKB 2.0

Annotation Detail for PTCHD1


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Basic Information Top
Gene Symbol:PTCHD1 ( FLJ30296,MGC149798 )
Gene Full Name: patched domain containing 1
Band: Xp22.11
Quick LinksEntrez ID:139411; OMIM: NA; Uniprot ID:PTHD1_HUMAN; ENSEMBL ID: ENSG00000165186; HGNC ID: 26392
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
No data
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001321 Autistic Disorder marker/mechanism 21091464
MESH:D002659 Child Development Disorders, Pervasive marker/mechanism 18252227 20844286
MESH:D008607 Mental Retardation marker/mechanism 20844286
MESH:D038901 Mental Retardation, X-Linked marker/mechanism 21091464
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134942420
  • No data
    Releated disease ID Related disease Name
    PA153906318Autism Spectrum Disorder
    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