AutismKB 2.0

Annotation Detail for BBS9


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Basic Information Top
Gene Symbol:BBS9 ( B1,C18,D1,MGC118917,PTHB1 )
Gene Full Name: Bardet-Biedl syndrome 9
Band: 7p14.3
Quick LinksEntrez ID:27241; OMIM: 607968; Uniprot ID:PTHB1_HUMAN; ENSEMBL ID: ENSG00000122507; HGNC ID: 30000
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
1722Nephroblastoma
2153Bardet-Biedl syndrome
No data
No data
Desease Name
Bardet-Biedl syndrome 9
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of BBS9 proteinaffects expression 20106945
C006632 arsenic trioxide arsenic trioxide results in increased expression of BBS9 mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of BBS9 mRNAdecreases expression 20498004
20106945
D016572 Cyclosporine Cyclosporine results in increased expression of BBS9 mRNAincreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of BBS9 mRNAaffects binding|increases activity|increases expression 19710929
D014635 Valproic Acid Valproic Acid results in increased expression of BBS9 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.958875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.5711798837 19825857
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.5720127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001321 Autistic Disorder Valproic Acid 1.9918775368 17688650 18940202 17507914 16609825 17157402 19460635 18316065 18177632 15238991 19232924 18396377 18558336 18985861 20603192
MESH:D020788 Bardet-Biedl Syndrome marker/mechanism
MESH:D001714 Bipolar Disorder Valproic Acid 3.2117594078 20046352
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 10.1016206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.1019483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.598888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0017474063 20146248
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.6811589617
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.2212619106 12907637 21507988
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.2216217749 15553829 15073043 14691202 11135700
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.4019014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.4212490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1220419170
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7312371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
MESH:D002779 Cholestasis Cyclosporine 8.5319486331
MESH:D002779 Cholestasis pirinixic acid 8.5319176532
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.5712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.7810525206
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.788888407 16575769 17688650
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.4515213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.241733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.573659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.443922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0720417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.877562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.717750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.533659116
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.6512903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.6516530937
MESH:D005234 Fatty Liver arsenic trioxide 21.6315073043
MESH:D005234 Fatty Liver Cyclosporine 21.6319224547
MESH:D005234 Fatty Liver pirinixic acid 21.6320131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 21.6314986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.518888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.5612639820 12168785
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.6416904648
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8020471113
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006529 Hepatomegaly pirinixic acid 3.4116221962 18467677 19772884 19176532
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5018776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0012371664
MESH:D007938 Leukemia arsenic trioxide 2.9615070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.1212560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.7716972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6614633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0919077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.0620471514 16467208 19850784 17050201 16968895
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.0617596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.4117712046 12679006 15336539 17217047 15748426 15622746 19035177 12018890 16331271 17649720 9834237 16823087 16112521 17869043 17107899 16966277 12712474 19075265 19642359 11161223 11468182 15213294 16330433 16891316 19225113
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.7316882451
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms Aflatoxin B1 11.542125692 9163691 18177683 15890375
MESH:D008113 Liver Neoplasms arsenic trioxide 11.5414682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.5421137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 11.5416377806 15890375 20007298
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.658603461
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.6520377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5915213294
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.6014755239
MESH:D008175 Lung Neoplasms arsenic trioxide 3.6019825857 11798837
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.6018520028 18569708 20135361 18816296 20064080 20464547 20869020 17053015 6695378
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D008881 Migraine Disorders Valproic Acid 3.4118803445 18765137
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.3219417148 11468182 15949261 14977855 19549372
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.1918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.9616105982 16882451
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.9617596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.3416624393
MESH:D009369 Neoplasms Benzo(a)pyrene 5.2811141357
MESH:D009369 Neoplasms pirinixic acid 5.2817405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009436 Neural Tube Defects arsenic trioxide 7.9710525206
MESH:D009436 Neural Tube Defects Valproic Acid 7.978888407 16359493
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4819769630 16624393 12452020
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6115580305
MESH:D010235 Paraganglioma arsenic trioxide 4.5119927285
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2920603192
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.1119131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1117292933
MESH:D019310 Pseudolymphoma Valproic Acid 5.0611422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5319155313
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.3416646077
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.941511512 14763951 3137016 16876388 11044598 15475178 17978042 11738929
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4910029692 19755658
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4317007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.432093021 20155912
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.3219014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.4215213294
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.3911780464 20435036 12845720 12973940
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.3917053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
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


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