AutismKB 2.0

Annotation Detail for PCDH15


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Basic Information Top
Gene Symbol:PCDH15 ( CDHR15,DFNB23,DKFZp667A1711,USH1F )
Gene Full Name: protocadherin-related 15
Band: 10q21.1
Quick LinksEntrez ID:65217; OMIM: 605514; Uniprot ID:PCD15_HUMAN; ENSEMBL ID: ENSG00000150275; HGNC ID: 14674
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
2207Deafness
Desease Name
familial combined hyperlipidemia
CHEMDEPENDENCY
smoking cessation
METABOLIC
No data
Desease Name
Usher syndrome, type 1F
Deafness, autosomal recessive 23
Usher syndrome, type 1D/F digenic
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D019259 Lamivudine [Zidovudine co-treated with Lamivudine co-treated with Indinavir] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 16931933
D019259 Lamivudine [Zidovudine co-treated with Lamivudine co-treated with Saquinavir] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 16931933
D019259 Lamivudine [Zidovudine co-treated with Lamivudine] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 16931933
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of PCDH15 geneincreases mutagenesis 15811708
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 17183730
D019469 Indinavir [Zidovudine co-treated with Lamivudine co-treated with Indinavir] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 16931933
D019258 Saquinavir [Zidovudine co-treated with Lamivudine co-treated with Saquinavir] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 16931933
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 17183730
D015215 Zidovudine [Zidovudine co-treated with Lamivudine co-treated with Indinavir] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 16931933
D015215 Zidovudine [Zidovudine co-treated with Lamivudine co-treated with Saquinavir] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 16931933
D015215 Zidovudine [Zidovudine co-treated with Lamivudine] results in increased expression of PCDH15 mRNAaffects cotreatment|increases expression 16931933
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.888875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2119490988
MESH:D000163 Acquired Immunodeficiency Syndrome Zidovudine 5.189612607
MESH:D000236 Adenoma Ethylnitrosourea 3.866695378
MESH:D000550 Amblyopia Valproic Acid 5.6817688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7917497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9918177632 17507914 19460635 18558336 17157402 18940202 19232924 15238991 17688650 18985861 18316065 20603192 16609825 18396377 18775368
MESH:D001714 Bipolar Disorder Valproic Acid 3.2020046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.578888407
MESH:D001927 Brain Diseases Ethylnitrosourea 5.1514991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.5516651633 16357521 15144691 16436596 18412241
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 3.9016003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.4317160924
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7920734317
MESH:D015834 Cochlear Diseases marker/mechanism 10978835
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9016575769 8888407 17688650
MESH:D003638 Deafness marker/mechanism 10978835
OMIM:609533 DEAFNESS, AUTOSOMAL RECESSIVE 23 marker/mechanism
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2319641884 1733752
MESH:D004362 Drug Toxicity Lamivudine 9.4715040536
MESH:D004362 Drug Toxicity Zidovudine 9.4715040536
MESH:D004421 Dystonia Valproic Acid 4.351851702
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.4318357618
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.513659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.3616628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0618234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.847562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.667750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.463659116
MESH:D005234 Fatty Liver Valproic Acid 9.1014986274 19224547
MESH:D005234 Fatty Liver Zidovudine 9.1018299183
MESH:D005315 Fetal Diseases Valproic Acid 5.3316575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.4618558336 8888407
MESH:D005909 Glioblastoma Ethylnitrosourea 4.0016436596
MESH:D005910 Glioma Ethylnitrosourea 3.5816357521 16651633 18412241
MESH:D006402 Hematologic Diseases Zidovudine 5.0212579204
MESH:D006509 Hepatitis B Lamivudine 5.3817703166
MESH:D019694 Hepatitis B, Chronic Lamivudine 5.3815631357 15274664 16476009 12044531 15309715
MESH:D015658 HIV Infections Indinavir 16.6011141242 15388451 11363243
MESH:D015658 HIV Infections Lamivudine 16.6017530837 11141242 9296927 20032539
MESH:D015658 HIV Infections Saquinavir 16.6011141242 15388451
MESH:D015658 HIV Infections Zidovudine 16.6011698656 11141242 17358032 20032539 11363243
MESH:D006849 Hydrocephalus Valproic Acid 5.2617688650
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.9816612254
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 8.8017379185
MESH:D007680 Kidney Neoplasms Zidovudine 8.8012579204
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Zidovudine 4.6920370541
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7017228818
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.1017703301 16019985 16271038 6695378
MESH:D008175 Lung Neoplasms Zidovudine 3.1018800350
MESH:D008223 Lymphoma Ethylnitrosourea 4.1315790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.4115375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.6718041768 10767621 10838139
MESH:D008579 Meningioma Ethylnitrosourea 6.4317943659
MESH:D048629 Micronuclei, Chromosome-Defective Zidovudine 6.2817358032
MESH:D008881 Migraine Disorders Valproic Acid 3.3818803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.318888407
MESH:D009164 Mycobacterium Infections Indinavir 5.8521442799
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3017596541
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.7616707424
MESH:D009436 Neural Tube Defects Valproic Acid 3.3016359493 8888407
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.8117160924 16651423 16003739
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.4317160924
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2320603192
MESH:D019310 Pseudolymphoma Valproic Acid 4.9812752131 11422049
MESH:D012206 Rhabdomyolysis Lamivudine 5.939296927
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4819155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9115475178 14763951 11738929 11044598 17978042 1511512 16876388 3137016
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9812833885
MESH:D013274 Stomach Neoplasms Zidovudine 2.4817696246
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.5615790496
MESH:D014178 Translocation, Genetic Valproic Acid 5.6817262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.923119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.008888407
OMIM:601067 USHER SYNDROME, TYPE ID marker/mechanism
OMIM:602083 USHER SYNDROME, TYPE IF marker/mechanism
MESH:D014625 Vaginal Neoplasms Zidovudine 5.1212579204
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA32999
    • No data
    Releated disease ID Related disease Name
    PA445218Pancreatic Neoplasms
    No data
    Drug Bank Top

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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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