AutismKB 2.0

Annotation Detail for CDH23


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Basic Information Top
Gene Symbol:CDH23 ( CDHR23,DKFZp434P2350,FLJ00233,FLJ36499,KIAA1774,KIAA1812,MGC102761,USH1D )
Gene Full Name: cadherin-related 23
Band: 10q22.1
Quick LinksEntrez ID:64072; OMIM: 605516; Uniprot ID:CAD23_HUMAN; ENSEMBL ID: ENSG00000107736; HGNC ID: 13733
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00012Cadherin signaling pathway
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1705Retinitis pigmentosa
2207Deafness
Desease Name
hearing loss, noise induced
VISION
usher syndrome
No data
Desease Name
Usher syndrome, type 1D
Usher syndrome, type 1D/F digenic
Deafness, autosomal recessive 12
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CDH23 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in increased expression of CDH23 mRNAincreases expression 20458559
D003010 Clorgyline Clorgyline results in increased expression of CDH23 mRNAincreases expression 19691856
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CDH23 mRNAaffects cotreatment|increases expression 17942748
D005419 Flavonoids Flavonoids results in increased expression of CDH23 mRNAincreases expression 18035473
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CDH23 mRNAaffects cotreatment|increases expression 17942748
D014212 Tretinoin Tretinoin results in increased expression of CDH23 mRNAincreases expression 15977162
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2411752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4819825857 11798837
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4814692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000505 Alopecia Tretinoin 3.8415955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.7315885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.7316412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4116456186
MESH:D001471 Barrett Esophagus Tretinoin 4.7316935849
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 17.0516206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 17.0512125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 17.0516206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9620435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9616443354 16166294 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9916813970
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.6311589617
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6016168501
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.1815553829 14691202 15073043 16217749 11135700
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.181917145
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.3219014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3812490120
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3516051514 16096774
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 16120746 18850075
MESH:D002386 Cataract Tretinoin 3.2417460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9916129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0715861022 16105132 11677210 17681005 17333356 16919318 17110522
MESH:D002822 Choriocarcinoma Tretinoin 5.6016461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.0915668235 16354765 12621046 15340226 8697196
MESH:D002972 Cleft Palate Tretinoin 6.099407595
MESH:D003092 Colitis Tretinoin 4.0617035595
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.5112609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 3.8910525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.8920055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 3.8914991402 10589399 9224671 17551590 9664655 16925845 9125849 9142499 9211117 8800419
OMIM:601386 DEAFNESS, AUTOSOMAL RECESSIVE 12 marker/mechanism
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.4015213294
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 13.4718230668 16714409 15322242
MESH:D004489 Edema, Cardiac Tretinoin 13.4718230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5212538720
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2816569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3612903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.5211564622
MESH:D005124 Eye Abnormalities Tretinoin 9.529664655 16938888
MESH:D005234 Fatty Liver arsenic trioxide 8.6915073043
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.6915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.8420067830
MESH:D005355 Fibrosis Tretinoin 9.8417994277
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5916904648
MESH:D005909 Glioblastoma Tretinoin 3.1717312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6016084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9711294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 6.979664655 14991402
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4915340226 18606429 8697196 16354765 16959395
MESH:D006930 Hyperalgesia Tretinoin 3.4316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9316778211
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Flavonoids 5.4217296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4212200463 12878042
MESH:D007410 Intestinal Diseases Tretinoin 4.1217994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.8916580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.8915992940 17551590
MESH:D007938 Leukemia arsenic trioxide 6.7515070760
MESH:D007938 Leukemia Tretinoin 6.7517143497
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0817077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.7016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 10.4319077051
MESH:D007951 Leukemia, Myeloid Tretinoin 10.4316482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.0220471514 19850784 17050201 16467208 16968895
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 4.0219850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 8.2012679006 16891316 11161223 17712046 15336539 15622746 16330433 9834237 19225113 15213294 16966277 12712474 12018890 17649720 17107899 17869043 16331271 19075265 19642359 16823087 11468182 17217047 19035177 16112521 15748426
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 8.2017301526 17368321 19642359 17712046 17107899 16766008 17649720 17217047 16788101 9834237 19035177 16331271 19029980 15748426 16891316 16140955 17339181 12679006 16935935 17506722 19225113 17361223 19075265 17294898 16823087
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.6816882451
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.509224671
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3712878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.3718397230 16248980
MESH:D008113 Liver Neoplasms arsenic trioxide 4.7314682389
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7316984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.3420377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5615213294
MESH:D008175 Lung Neoplasms arsenic trioxide 2.3611798837 19825857
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3611884234 19555203
MESH:D008527 Medulloblastoma Tretinoin 2.8717453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7816940565
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2919417148 11468182 15949261 14977855 19549372
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.1218349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.8716882451 16105982
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.8717596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2916624393
MESH:D009369 Neoplasms Tretinoin 2.5216594593 16946489
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.6314600291
MESH:D009421 Nervous System Malformations Tretinoin 10.639125849
MESH:D009436 Neural Tube Defects arsenic trioxide 7.8710525206
MESH:D009436 Neural Tube Defects Tretinoin 7.879142499
MESH:D010051 Ovarian Neoplasms arsenic trioxide 5.1116624393 12452020 19769630
MESH:D010051 Ovarian Neoplasms Tretinoin 5.1116936753
MESH:D010146 Pain Tretinoin 3.1316870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 5.5715580305
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.5715976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010235 Paraganglioma arsenic trioxide 4.4719927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911399792 11896295 11222880 11118676
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.6019131511
MESH:D011471 Prostatic Neoplasms Clorgyline 3.6019691856
MESH:D011507 Proteinuria Tretinoin 3.9116636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D011625 Pterygium Tretinoin 5.1916723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4016283617 16116481
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2916646077
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9416192470
MESH:D012878 Skin Neoplasms Tretinoin 5.9416467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3816709447
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.5117007042
MESH:D013274 Stomach Neoplasms Tretinoin 2.5117261132
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.9219014326
MESH:D013964 Thyroid Neoplasms Tretinoin 7.9216026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.0516051514
MESH:D016171 Torsades de Pointes arsenic trioxide 4.3615213294
MESH:D014376 Tuberculosis Tretinoin 3.3816040207
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.5720435036 11780464 12845720 12973940
OMIM:601067 USHER SYNDROME, TYPE ID marker/mechanism
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9416129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D014604 Uveal Neoplasms Tretinoin 5.0516752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D014820 Vitiligo Tretinoin 4.3916761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D009396 Wilms Tumor Tretinoin 4.2216287080
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26296
    • No data
    No data
    Releated drug ID Related drug Name
    PA450626nicotine
    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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