AutismKB 2.0

Annotation Detail for FAM123B


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Basic Information Top
Gene Symbol:FAM123B ( AMER1,FLJ39827,OSCS,WTX )
Gene Full Name: family with sequence similarity 123B
Band: Xq11.2
Quick LinksEntrez ID:139285; OMIM: 300647; Uniprot ID:F123B_HUMAN; ENSEMBL ID: ENSG00000184675; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200064Canonical Wnt signaling pathway
No data
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Related Diseases/Disorders Top
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Desease Name
Osteopathia striata with cranial sclerosis
Comparative Toxicogenomics Database Top
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Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS marker/mechanism 19079258
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Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA145148904
    • No data
    Releated disease ID Related disease Name
    PA445084Wilms Tumor
    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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