AutismKB 2.0

Annotation Detail for ZNF469


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Basic Information Top
Gene Symbol:ZNF469 ( BCS,KIAA1858 )
Gene Full Name: zinc finger protein 469
Band: 16q24.2
Quick LinksEntrez ID:84627; OMIM: 612078; Uniprot ID:ZN469_HUMAN; ENSEMBL ID: ENSG00000225614; HGNC ID: 23216
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
No data
Desease Name
Central corneal thickness
Desease Name
Brittle cornea syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of ZNF469 mRNAdecreases expression 20382639
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0820889678
MESH:D003316 Corneal Diseases marker/mechanism 18452888
MESH:C536192 Ehlers-Danlos syndrome 6B marker/mechanism 18452888
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1720426865
MESH:D007593 Joint Instability marker/mechanism 18452888
MESH:D012868 Skin Abnormalities marker/mechanism 18452888
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134861470
    • No data
    Releated disease ID Related disease Name
    PA162372748Brittle Cornea Syndrome
    PA443780Connective Tissue Diseases
    PA446482Skin and Connective Tissue Diseases
    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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