AutismKB 2.0

Annotation Detail for CRYBB3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CRYBB3 ( CATCN2,CRYB3,MGC125772,MGC125773,MGC125774 )
Gene Full Name: crystallin, beta B3
Band: 22q11.23
Quick LinksEntrez ID:1417; OMIM: 123630; Uniprot ID:CRBB3_HUMAN; ENSEMBL ID: ENSG00000100053; HGNC ID: 2400
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Cataract, congenital nuclear, 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of CRYBB3 mRNAdecreases expression 11566570
D000431 Ethanol Ethanol results in decreased expression of CRYBB3 mRNAdecreases expression 11566570
D000431 Ethanol Ethanol results in decreased expression of CRYBB3 mRNAdecreases expression 15513904
D010634 Phenobarbital Phenobarbital results in increased expression of CRYBB3 mRNAincreases expression 19270015
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 11.2918926900 17676605
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 11.296195326
MESH:D000138 Acidosis Ethanol 5.2411192467
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.7117620307
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 6.1915451039 15451040
MESH:D000853 Anophthalmos Ethanol 5.4715513904
MESH:D001008 Anxiety Disorders Ethanol 4.3711141031
MESH:D002056 Burns Ethanol 5.3016374292
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.4316124888 3786805 16011737 18705752 16097048 16050911 15721981 16192424 15673190 16227642 10355542 15700767
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.9718788625
MESH:D006528 Carcinoma, Hepatocellular Ethanol 4.9715763234 18788625 15289165
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.9720935162 17173139 20007298 6705139 1701930
MESH:D006332 Cardiomegaly Ethanol 3.6519332462
OMIM:609741 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 marker/mechanism
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.904080065
MESH:D002971 Cleft Lip Ethanol 3.7815513904
MESH:D002972 Cleft Palate Ethanol 3.3215513904
MESH:D019465 Craniofacial Abnormalities Ethanol 2.3411873399 10194807 15451040 11198716 15513904 15451039 19302082
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.4519336974 6884620 3732212 15998439 17522070 10092053 9327722 6623471 4309450 15027814 16227642 7179309 3786805 11566570 7120509 19085960 2869522 21278145 16177239 7440962 15968718 10915739
MESH:D056486 Drug-Induced Liver Injury Ethanol 4.4511566570
MESH:D004421 Dystonia Phenobarbital 4.531851702
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.763659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.7411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.966401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.907750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.763659116
MESH:D004938 Esophageal Neoplasms Ethanol 2.8316704527
MESH:D005234 Fatty Liver Carbon Tetrachloride 9.6819224547 16045604 61145 15959796 16239168 12795759 17595544 12631006
MESH:D005234 Fatty Liver Ethanol 9.6819236843 16409862 18620774
MESH:D005235 Fatty Liver, Alcoholic Ethanol 6.5317920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 6.0410194807 15451040 16946407 15513904
MESH:D005355 Fibrosis Carbon Tetrachloride 4.1018705752
MESH:D005756 Gastritis Ethanol 5.5615046732
MESH:D006505 Hepatitis Carbon Tetrachloride 4.1819110552 19900420
MESH:D006529 Hepatomegaly Phenobarbital 4.1316109766
MESH:D006930 Hyperalgesia Ethanol 4.0818783367
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 5.2716899240
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.7415338365
MESH:D007569 Jaw Abnormalities Ethanol 4.8915513904
MESH:D007859 Learning Disorders Ethanol 4.8615451040
MESH:D017880 Limb Deformities, Congenital Ethanol 4.1217676605
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 12.3416943688 17334410 11408273 17174718 16221502 17157831 16239168 21278145 11903743
MESH:D008103 Liver Cirrhosis Ethanol 12.3415289165
MESH:D008103 Liver Cirrhosis Phenobarbital 12.3421047994
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.8418295389
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.7817805973 15959796 14748882 15650968 17761835 14724832 16638106 12609069 17922224 18418968 16015684 10355542 18210741 12389079 16248980 14716833 15931870 17900296 15730626 12445421 18395914 15370692 15673190 20821823 18472094 17565644 18277467 14512876 12632514 17640975 12649538 17721639 17708605 18156304 17481882 18205269 18054572 16097048 18412020 18395095 18472332 16027843 17869086 18279442 15338365 13678700 16136751 17698563 15996030 18420326 12546737 18263696 18339082 17823541 17631135 18429990 12586293 16011737 12958196 17944888 15818738 14716496 18376398 14620537 18251166 18317297 17557913 16116963 12898905 15925388 17766677 18166357 18187930 17525996 17714472 18481824 16192424 15052691 12632512 12667390 15123356 15876570 12741479 17976157 15362042 15057751 18705752 15893842 16033810 11481614 12445418 12666154 18006644
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.7818166357
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.3915720792 16964402 15830285 17285989 16246199
MESH:D008107 Liver Diseases Phenobarbital 4.3919363144
MESH:D008108 Liver Diseases, Alcoholic Ethanol 5.3017207112 17347304
MESH:D017093 Liver Failure Carbon Tetrachloride 4.8215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 4.1416899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 5.0619294768
MESH:D008113 Liver Neoplasms Phenobarbital 5.0619482888 19812893 21047994 15975961 19073162 8742319
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.8315583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.8318308698 6150874 17172636 2563599 1399818
MESH:D008569 Memory Disorders Ethanol 4.7715451040 18411066
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.2217484760
MESH:D010018 Osteomalacia Phenobarbital 5.1117016548
MESH:D010190 Pancreatic Neoplasms Ethanol 5.8812384795
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.8816965848
MESH:D011230 Precancerous Conditions Phenobarbital 4.042563599
MESH:D019310 Pseudolymphoma Phenobarbital 5.3612752131
MESH:D012640 Seizures Ethanol 7.139754883
MESH:D012640 Seizures Phenobarbital 7.133137016 16876388 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.566407741
MESH:D013274 Stomach Neoplasms Ethanol 2.3118456281
MESH:D013276 Stomach Ulcer Ethanol 4.0111906479 17189318 17918041 16755016 9562338 9211565
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.709754883
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.391399818
No data
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved