AutismKB 2.0

Annotation Detail for DSG1


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Basic Information Top
Gene Symbol:DSG1 ( CDHF4,DG1,DSG,PPKS1,SPPK1 )
Gene Full Name: desmoglein 1
Band: 18q12.1
Quick LinksEntrez ID:1828; OMIM: 125670; Uniprot ID:DSG1_HUMAN; ENSEMBL ID: ENSG00000134760; HGNC ID: 3048
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05150Staphylococcus aureus infection
Pathway IDPathway Name
Apoptosis
No data
No data
Pathway IDPathway Name
500272Apoptotic cleavage of cell adhesion proteins
Related Diseases/Disorders Top
No data
No data
Desease Name
IMMUNE
eosinophilic esophagitis (pediatric)
pemphigus foliaceus
Desease Name
Eosinophilic esophagitis (pediatric)
Desease Name
Keratosis palmoplantaris striata I
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C069741 norcantharidin norcantharidin results in decreased expression of DSG1 proteindecreases expression 15711181
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D005706 Gallbladder Neoplasms norcantharidin 7.1816681930
OMIM:148700 KERATOSIS PALMOPLANTARIS STRIATA I marker/mechanism
MESH:D009362 Neoplasm Metastasis norcantharidin 4.9715711181
Pathway ID Pathway Name
REACT:578 Apoptosis
KEGG:05150 Staphylococcus aureus infection
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27501
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    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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