AutismKB 2.0

Annotation Detail for PCDH20


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Basic Information Top
Gene Symbol:PCDH20 ( FLJ22218,PCDH13 )
Gene Full Name: protocadherin 20
Band: 13q21.2
Quick LinksEntrez ID:64881; OMIM: NA; Uniprot ID:PCD20_HUMAN; ENSEMBL ID: ENSG00000197991; HGNC ID: 14257
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
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in decreased expression of PCDH20 mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PCDH20 mRNAaffects binding|decreases expression|increases activity 19710929
D014635 Valproic Acid Valproic Acid results in increased expression of PCDH20 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.238875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4119490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D000550 Amblyopia Valproic Acid 6.1017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9417497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9819460635 18775368 17688650 18177632 17157402 20603192 18396377 16609825 19232924 15238991 18985861 17507914 18558336 18940202 18316065
MESH:D001714 Bipolar Disorder Valproic Acid 3.2617594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.668888407
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8320734317
MESH:D002779 Cholestasis Cyclosporine 8.8619486331
MESH:D002779 Cholestasis pirinixic acid 8.8619176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9116575769 8888407 17688650
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2619641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.581851702
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.813659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.7816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1218234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 4.006426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.957750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.813659116
MESH:D005234 Fatty Liver Cyclosporine 16.0419224547
MESH:D005234 Fatty Liver pirinixic acid 16.0420131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 16.0414986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.7516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.718888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.7912168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.6418467677 16221962 19772884 19176532
MESH:D006849 Hydrocephalus Valproic Acid 5.6117688650
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9415890375 16377806 20007298
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.1317228818
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D008881 Migraine Disorders Valproic Acid 3.5018803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.518888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3717596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7018481113 19348381
MESH:D009436 Neural Tube Defects Valproic Acid 3.398888407 16359493
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.5720603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.4112752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7019155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.0214763951 17978042 16876388 11044598 3137016 11738929 15475178 1511512
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1319490988
MESH:D013226 Status Epilepticus Valproic Acid 5.4112833885
MESH:D014178 Translocation, Genetic Valproic Acid 6.1017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.263119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.308888407
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
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