AutismKB 2.0

Annotation Detail for BBS1


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Basic Information Top
Gene Symbol:BBS1 ( BBS2L2,FLJ23590,MGC126183,MGC126184,MGC51114 )
Gene Full Name: Bardet-Biedl syndrome 1
Band: 11q13.2
Quick LinksEntrez ID:582; OMIM: 209901; Uniprot ID:BBS1_HUMAN; ENSEMBL ID: ENSG00000174483; HGNC ID: 966
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
Desease IDDesease Name
2153Bardet-Biedl syndrome
2178Retinal disease
No data
No data
Desease Name
Bardet-Biedl syndrome 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BBS1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BBS1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.7314514962 11752688 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 5.0117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.9014692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.2616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.4511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.2311256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9315885639
MESH:D020788 Bardet-Biedl Syndrome marker/mechanism
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.8615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6016120746 18850075 18670907
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2416105132 17333356 17681005 17110522 11677210 15861022 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2615668235 8697196 12621046 15340226 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 15322242 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7517107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.9212711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.9716714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.8612538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.5310568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3811564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.3615345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.2211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.7120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5511294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8911000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.6515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.1216354765 15340226 16959395 18606429 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0418850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.5716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 4.0712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7917937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0612878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8916580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3812151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.4312213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8914600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.3212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.2318163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.0811118676 11399792 11896295 11222880
MESH:D011537 Pruritus Ethinyl Estradiol 4.2016919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.5118990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 5.0116709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.2311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.6215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.9712697716
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.9714692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.6612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0915869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.3215886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25275
    • No data
    Releated disease ID Related disease Name
    PA152407979Familial aplasia of the vermis
    PA143414733Meckel syndrome (MKS)
    No data
    Drug Bank Top

    Simple Query:


      (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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