AutismKB 2.0

Annotation Detail for PCDH19


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Basic Information Top
Gene Symbol:PCDH19 ( DKFZp686P1843,EFMR,KIAA1313 )
Gene Full Name: protocadherin 19
Band: Xq22.1
Quick LinksEntrez ID:57526; OMIM: 300460; Uniprot ID:PCD19_HUMAN; ENSEMBL ID: ENSG00000165194; HGNC ID: 14270
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
1799Epilepsy
1916Pervasive development disorder
No data
No data
Desease Name
Epilepsy, female-restricted, with mental retardation
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of PCDH19 mRNAincreases expression 19933214
C006632 arsenic trioxide arsenic trioxide results in decreased expression of PCDH19 mRNAdecreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of PCDH19 mRNAincreases expression 20713471
D002118 Calcium Calcium binds to PCDH19 proteinaffects binding 18469813
C014347 decitabine [decitabine co-treated with trichostatin A] results in increased expression of PCDH19 mRNAaffects cotreatment|increases expression 17891453
D004041 Dietary Fats Dietary Fats results in increased expression of PCDH19 mRNAincreases expression 18042831
C041786 palm oil palm oil results in increased expression of PCDH19 mRNAincreases expression 18042831
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PCDH19 mRNAincreases expression 19933214
C012589 trichostatin A [decitabine co-treated with trichostatin A] results in increased expression of PCDH19 mRNAaffects cotreatment|increases expression 17891453
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 11752688 14514962
MESH:D000230 Adenocarcinoma arsenic trioxide 4.5019825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.5020127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.766695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001161 Arteriosclerosis Dietary Fats 4.1515238619
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.6616206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.6612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9620146248 17474063
MESH:D001943 Breast Neoplasms decitabine 1.9619208741 18320071
MESH:D001943 Breast Neoplasms Dietary Fats 1.9620435547
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9620435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5511589617
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 1.9714691202 11135700 15073043 16217749 15553829
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1919014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3112490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8520419170
MESH:D002294 Carcinoma, Squamous Cell decitabine 4.8519215824
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4716120746 18850075 18670907
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.188697196 16354765 15340226 15668235 12621046
MESH:D003110 Colonic Neoplasms decitabine 2.3617616700
MESH:D015179 Colorectal Neoplasms arsenic trioxide 2.6220501625
MESH:D015179 Colorectal Neoplasms decitabine 2.6218981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.4212609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5210525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5210048152 15322242 20055451
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.3215213294
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D050171 Dyslipidemias Dietary Fats 3.6018367378
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 15322242 18230668
MESH:D004701 Endocrine Gland Neoplasms decitabine 15.1119294695
MESH:D004701 Endocrine Gland Neoplasms trichostatin A 15.1119294695
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D004827 Epilepsy marker/mechanism 18469813
OMIM:300088 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9 marker/mechanism
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.5912903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5916530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver arsenic trioxide 8.5915073043
MESH:D005234 Fatty Liver Dietary Fats 8.5919004024 17967931 19551842 18296743
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Dietary Fats 9.5018296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.5020067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5016904648
MESH:D005909 Glioblastoma trichostatin A 3.9618801729
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.6219215824
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7711294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3615340226 16354765 18606429 16959395 8697196
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8021332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.8321332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718850075 18670907
MESH:D007248 Infertility, Male decitabine 3.3317581917
MESH:D007249 Inflammation Dietary Fats 5.2420412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2412878042 12200463
MESH:D007333 Insulin Resistance Dietary Fats 3.2318457598 11836018
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.3616316344
MESH:D007938 Leukemia arsenic trioxide 6.7615070760
MESH:D007938 Leukemia decitabine 6.7619235587 18980019
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0012560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5916972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5814633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 10.2819077051
MESH:D007951 Leukemia, Myeloid decitabine 10.2818454857 17236224 19117987
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 6.4616467208 19850784 20471514 16968895 17050201
MESH:D015470 Leukemia, Myeloid, Acute decitabine 6.4619010910 17679729 19387464 18206229 18460780 18704418
MESH:D015470 Leukemia, Myeloid, Acute trichostatin A 6.4618206229
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.7818055864
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3419075265 17217047 12712474 16330433 11468182 19035177 17107899 15622746 16891316 9834237 16823087 15748426 15213294 15336539 17712046 16331271 17649720 19225113 19642359 12679006 11161223 16966277 16112521 12018890 17869043
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5916882451
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9818296743
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms arsenic trioxide 7.7814682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.7820195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7816984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.2120377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2112151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5115213294
MESH:D008175 Lung Neoplasms arsenic trioxide 3.4711798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4720064080 18569708 20464547 18816296 6695378 20135361 18520028 20869020 17053015
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4719555203 11884234
MESH:D008223 Lymphoma decitabine 3.5619470736
MESH:D008545 Melanoma decitabine 3.8216505122 17785578
MESH:D008545 Melanoma trichostatin A 3.8216505122
MESH:D038901 Mental Retardation, X-Linked marker/mechanism 18469813
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3516381670
MESH:D009101 Multiple Myeloma arsenic trioxide 13.0819417148 15949261 14977855 11468182 19549372
MESH:D009101 Multiple Myeloma decitabine 13.0818172295
MESH:D009101 Multiple Myeloma trichostatin A 13.0818172295
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.8616882451 16105982
MESH:D009190 Myelodysplastic Syndromes decitabine 7.8619010910 16882708 18608210 19157545
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2016624393
MESH:D009369 Neoplasms Benzo(a)pyrene 5.4111141357
MESH:D009369 Neoplasms decitabine 5.4119470736 19116145 17925555
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2410525206
MESH:D009765 Obesity Dietary Fats 2.3321332399 20132043 18674790 18457598 17217161 16723640 19632207 20518802 11836018
MESH:D010024 Osteoporosis Calcium 3.9017882678
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.3719769630 12452020 16624393
MESH:D010051 Ovarian Neoplasms decitabine 8.3719259094 19331143
MESH:D010051 Ovarian Neoplasms trichostatin A 8.3719331143
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 9.1515580305
MESH:D010190 Pancreatic Neoplasms decitabine 9.1519294695
MESH:D010190 Pancreatic Neoplasms trichostatin A 9.1519294695
MESH:D010235 Paraganglioma arsenic trioxide 4.3819927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811399792 11118676 11896295 11222880
MESH:D055728 Primary Myelofibrosis decitabine 13.3117616702
MESH:D055728 Primary Myelofibrosis trichostatin A 13.3117616702
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.6119131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.6117292933
MESH:D011471 Prostatic Neoplasms trichostatin A 2.6119789329 18798265
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.6219155313
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2016646077
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7619755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7616192470
MESH:D013274 Stomach Neoplasms arsenic trioxide 3.4717007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.4720155912 2093021
MESH:D013274 Stomach Neoplasms decitabine 3.4719037991
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.8419014326
MESH:D013964 Thyroid Neoplasms decitabine 7.8417967635
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2415213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 8.7612973940 20435036 12845720 11780464
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.7617053015
MESH:D001749 Urinary Bladder Neoplasms decitabine 8.7619087683 17616700
MESH:D014604 Uveal Neoplasms decitabine 5.2317785578
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D015430 Weight Gain Dietary Fats 3.9216723640
No data
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  (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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