AutismKB 2.0

Annotation Detail for CRYBB2


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Basic Information Top
Gene Symbol:CRYBB2 ( CCA2,CRYB2,CRYB2A,D22S665 )
Gene Full Name: crystallin, beta B2
Band: 22q11.23
Quick LinksEntrez ID:1415; OMIM: 123620; Uniprot ID:CRBB2_HUMAN; ENSEMBL ID: ENSG00000100058; HGNC ID: 2398
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1808Eye disease
No data
No data
Desease Name
Cataract, sutural, with punctate and cerulean opacities
Cataract, Coppock-like
Cataract, cerulean, type 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D019386 Alendronate Alendronate affects the expression of CRYBB2 mRNAaffects expression 16079270
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of CRYBB2 mRNAaffects expression 16079270
D005419 Flavonoids Flavonoids results in increased expression of CRYBB2 mRNAincreases expression 18035473
C025299 polyphenols polyphenols results in decreased expression of CRYBB2 mRNAdecreases expression 16293270
D020849 Raloxifene Raloxifene affects the expression of CRYBB2 mRNAaffects expression 16079270
D014501 Uranium Uranium affects the expression of CRYBB2 mRNAaffects expression 15672453
C005460 uranyl acetate uranyl acetate affects the expression of CRYBB2 mRNAaffects expression 15672453
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D000419 Albuminuria Raloxifene 4.9217451421 17308373
MESH:D000544 Alzheimer Disease Raloxifene 2.5915800139
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001930 Brain Injuries Raloxifene 4.8316580743
MESH:D001943 Breast Neoplasms Raloxifene 2.6417242785 17440819 17595753 17049068 16837676 17261762 15572757 17952589 16912660 17893378 15758505 15775269
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 4.3417572228
MESH:D002318 Cardiovascular Diseases Raloxifene 3.6315775269
MESH:D002386 Cataract marker/mechanism
OMIM:601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2 marker/mechanism
OMIM:604307 CATARACT, COPPOCK-LIKE marker/mechanism
OMIM:607133 CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES marker/mechanism
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0717110522 17681005 17333356 15861022 16919318 11677210 16105132
MESH:D003072 Cognition Disorders Raloxifene 4.9815800139
MESH:D003110 Colonic Neoplasms polyphenols 2.7116293270
MESH:D003865 Depressive Disorder, Major Raloxifene 4.4117474826
MESH:D003928 Diabetic Nephropathies Raloxifene 4.1817451421 15920148 17308373
MESH:D056486 Drug-Induced Liver Injury polyphenols 2.8019370779
MESH:D004487 Edema Raloxifene 3.6115860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.2312538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 10.2315845917
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.8115345470
MESH:D005234 Fatty Liver Raloxifene 8.8117473493
MESH:D006331 Heart Diseases Raloxifene 3.7211110106
MESH:D006930 Hyperalgesia Alendronate 4.9316769263
MESH:D006973 Hypertension Raloxifene 2.9515787275 17577099
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Flavonoids 5.8717296493
MESH:D007249 Inflammation polyphenols 5.8716366677
MESH:D007889 Leiomyoma Raloxifene 4.8016973256
MESH:D008107 Liver Diseases polyphenols 2.8316698588
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 6.0015863610
MESH:D009101 Multiple Myeloma Raloxifene 3.6316497877
MESH:D009232 Myxoma Raloxifene 6.0016343187
MESH:D010024 Osteoporosis Alendronate 8.3217882678
MESH:D010024 Osteoporosis Raloxifene 8.3219059307 15775268 17882678
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.5315579764 17823083 15758505 17893378
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D011471 Prostatic Neoplasms Raloxifene 3.5616536755 15731164 16220300
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D011693 Purpura Raloxifene 6.0015770314
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3816709447
MESH:D020521 Stroke Raloxifene 4.0416837676
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.6917997062
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013978 Tibial Fractures Raloxifene 5.6519048282
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 2.9017572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D054556 Venous Thromboembolism Raloxifene 5.6516837676
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D014846 Vulvar Neoplasms Raloxifene 6.0016343187
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB03131 - Beta-Mercaptoethanol
No data
No data
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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