AutismKB 2.0

Annotation Detail for PNKD


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PNKD ( BRP17,DKFZp564N1362,DYT8,FPD1,KIAA1184,KIPP1184,MGC31943,MR-1,MR1,PDC,TAHCCP2 )
Gene Full Name: paroxysmal nonkinesigenic dyskinesia
Band: 2q35
Quick LinksEntrez ID:25953; OMIM: 609023; Uniprot ID:PNKD_HUMAN; ENSEMBL ID: ENSG00000127838; HGNC ID: 9153
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PNKD mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in decreased expression of PNKD mRNAdecreases expression 20106945
D002117 Calcitriol Calcitriol results in decreased expression of PNKD mRNAdecreases expression 16002434
D010634 Phenobarbital Phenobarbital results in decreased expression of PNKD mRNAdecreases expression 19270015
C006253 pirinixic acid pirinixic acid results in increased expression of PNKD mRNAincreases expression 18301758
C010327 salinomycin salinomycin results in decreased expression of PNKD mRNAdecreases expression 19682730
D018038 Sodium Selenite Sodium Selenite results in increased expression of PNKD mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PNKD mRNAdecreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.446195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.4414514962 11752688 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 19.3717620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 19.3716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 19.3716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Calcitriol 2.0311237771
MESH:D001943 Breast Neoplasms salinomycin 2.0319682730
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.973084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 2.971701930 17173139 20007298 20935162 6705139
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.6811237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6812371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.564080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Cyclosporine 8.3519486331
MESH:D002779 Cholestasis pirinixic acid 8.3519176532
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0615894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 15668235 15340226 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9916285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5119164858 12705907 15619225 12958197 12594235 10663392 19085960 15968718 16227642 19739265 11743745 11529661 2444490 17906064 12392966 10915739 14550746 12540782 19923254 17522070 19370779 11421492 16177239 14725611 19420014 11287661 17562736 18071297 10774834 11461765 16485898 16781746 11739529 19416960 16081117 12153990 18713872 16393943 16109766 14986274 11834606
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.5115131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5120420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004421 Dystonia Phenobarbital 4.261851702
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.2115138306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.413659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.253922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.766401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.567750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.363659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Cyclosporine 8.3819224547
MESH:D005234 Fatty Liver pirinixic acid 8.3819236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Cyclosporine 9.5212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.5220067830
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Phenobarbital 16.2516109766
MESH:D006529 Hepatomegaly pirinixic acid 16.2519176532 16221962 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 16.2512621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4216959395 18606429 16354765 15340226 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006973 Hypertension Cyclosporine 5.2110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 7.8116306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.8114714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Acetaminophen 6.2212587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.2218776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9312371664
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0121047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008107 Liver Diseases Acetaminophen 4.1019014921 12969438 19460945 16611625 19784758 11587558 16610002 12587719
MESH:D008107 Liver Diseases Phenobarbital 4.1019363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4616871587 17185352
MESH:D008113 Liver Neoplasms Phenobarbital 7.8119482888 19073162 21047994 19812893 8742319 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 7.8116377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8116984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.2617172636 6150874 1399818 18308698 2563599
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2612151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.3214737004
MESH:D008325 Mammary Neoplasms, Experimental salinomycin 3.9119682730
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8117484760
MESH:D009369 Neoplasms pirinixic acid 2.0517405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5019348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010018 Osteomalacia Phenobarbital 4.7017016548
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5616965848
OMIM:118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 marker/mechanism
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.6912371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.692563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311222880 11399792 11118676 11896295
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.1215572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.3815754350 16289102 16644109 18247401 12479363
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3818760546
MESH:D019310 Pseudolymphoma Phenobarbital 4.8712752131
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012640 Seizures Phenobarbital 2.8416876388 11442880 4039156 3137016
MESH:D003294 Seizures, Febrile Phenobarbital 5.166407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.231399818
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
No data
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved