AutismKB 2.0

Annotation Detail for WBSCR17


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Basic Information Top
Gene Symbol:WBSCR17 ( DKFZp434I2216,DKFZp761D2324,GALNT16,GALNT20,GALNTL3 )
Gene Full Name: Williams-Beuren syndrome chromosome region 17
Band: 7q11.23
Quick LinksEntrez ID:64409; OMIM: NA; Uniprot ID:GLTL3_HUMAN; ENSEMBL ID: ENSG00000185274; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00512O-Glycan biosynthesis
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of WBSCR17 mRNAincreases expression 19774075
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.3718057881 18218290 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 4.3118651412 19698954
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.5319483382
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0315710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 6.1718974383
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.5015265979 18218290
MESH:D005234 Fatty Liver Amiodarone 4.1414986274
MESH:D006529 Hepatomegaly Amiodarone 4.6515265979
MESH:D006937 Hypercholesterolemia Amiodarone 4.509751232 8137927
MESH:D007037 Hypothyroidism Amiodarone 5.4217991464 18020914
MESH:D008064 Lipidoses Amiodarone 3.8917567588 15342952
MESH:D008133 Long QT Syndrome Amiodarone 4.0117391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.7112587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.8918516814
MESH:D009181 Mycoses Amiodarone 6.3212754197 17974566
MESH:D011658 Pulmonary Fibrosis Amiodarone 3.0112832656 11597910 12490602
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 6.1718724381
MESH:D013276 Stomach Ulcer Amiodarone 3.9418087811
MESH:D013610 Tachycardia Amiodarone 5.0811238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.9819225199
MESH:D013959 Thyroid Diseases Amiodarone 6.1719731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.7719584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 5.2811989578 17467628
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
KEGG:00512 Mucin type O-Glycan biosynthesis
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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