AutismKB 2.0

Annotation Detail for CSMD2


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Basic Information Top
Gene Symbol:CSMD2 ( KIAA1884,dJ1007G16.1,dJ1007G16.2,dJ947L8.1 )
Gene Full Name: CUB and Sushi multiple domains 2
Band: 1p35.1
Quick LinksEntrez ID:114784; OMIM: 608398; Uniprot ID:CSMD2_HUMAN; ENSEMBL ID: ENSG00000121904; HGNC ID: 19290
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
ADHD
PSYCH
Brain structure
attention-deficit hyperactivity disorder
NEUROLOGICAL
Desease Name
Brain structure
Attention deficit hyperactivity disorder
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002117 Calcitriol Calcitriol results in increased expression of CSMD2 mRNAincreases expression 16002434
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001943 Breast Neoplasms Calcitriol 2.5511237771
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.7311237771
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.7215138306
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.8715572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4618247401 16289102 12479363 15754350 16644109
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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  (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


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