AutismKB 2.0

Annotation Detail for BBS5


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Basic Information Top
Gene Symbol:BBS5 ( - )
Gene Full Name: Bardet-Biedl syndrome 5
Band: 2q31.1
Quick LinksEntrez ID:129880; OMIM: 603650; Uniprot ID:BBS5_HUMAN; ENSEMBL ID: ENSG00000163093,ENSG00000251569; HGNC ID: 970
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Other genetic disorders
H00418Bardet-Biedl syndrome
Genetic disorders
No data
No data
No data
Desease Name
Bardet-Biedl syndrome 5
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of BBS5 mRNAaffects expression 17562736
D004041 Dietary Fats Dietary Fats results in decreased expression of BBS5 mRNAdecreases expression 18042831
C041786 palm oil palm oil results in decreased expression of BBS5 mRNAdecreases expression 18042831
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D001161 Arteriosclerosis Dietary Fats 4.5415238619
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D020788 Bardet-Biedl Syndrome marker/mechanism
MESH:D001943 Breast Neoplasms Dietary Fats 2.2420435547
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8110977129
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6812392966 14725611 11529661 16781746 16393943 11739529 19370779 11287661 10663392 17906064 15619225 18713872 17562736 19739265 16485898 18071297 10774834 10915739 14550746 11743745 19420014 11461765 12153990 12705907 12540782 16081117 12958197 16109766 2444490 19416960 12594235 16177239 19085960 16227642 11834606 14986274 11421492 15968718 19164858 17522070 19923254
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D050171 Dyslipidemias Dietary Fats 3.7618367378
MESH:D005234 Fatty Liver Dietary Fats 3.7219004024 18296743 19551842 17967931
MESH:D005355 Fibrosis Dietary Fats 4.1718296743
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D006937 Hypercholesterolemia Dietary Fats 4.0821332399
MESH:D006949 Hyperlipidemias Dietary Fats 4.1421332399
MESH:D007249 Inflammation Dietary Fats 2.6220412841
MESH:D007333 Insulin Resistance Dietary Fats 3.3711836018 18457598
MESH:D007674 Kidney Diseases Acetaminophen 2.4212587719 15629191
MESH:D008103 Liver Cirrhosis Dietary Fats 3.0918296743
MESH:D008107 Liver Diseases Acetaminophen 1.7112969438 19460945 16611625 19014921 16610002 12587719 11587558 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6816871587 17185352
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D009765 Obesity Dietary Fats 2.3620518802 19632207 16723640 18674790 20132043 21332399 18457598 11836018 17217161
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D014581 Urticaria Acetaminophen 3.5010982225
MESH:D015430 Weight Gain Dietary Fats 4.1516723640
No data
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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