AutismKB 2.0

Annotation Detail for EEPD1


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Basic Information Top
Gene Symbol:EEPD1 ( HSPC107,KIAA1706 )
Gene Full Name: endonuclease/exonuclease/phosphatase family domain containing 1
Band: 7p14.2
Quick LinksEntrez ID:80820; OMIM: NA; Uniprot ID:EEPD1_HUMAN; ENSEMBL ID: ENSG00000122547; HGNC ID: 22223
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 EEPD1 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of EEPD1 mRNAincreases expression 19774075
D001104 Arbutin Arbutin results in increased expression of EEPD1 mRNAincreases expression 17103032
D002117 Calcitriol Calcitriol results in decreased expression of EEPD1 mRNAdecreases expression 16002434
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of EEPD1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital affects the expression of EEPD1 mRNAaffects expression 19136022
D010634 Phenobarbital Phenobarbital results in increased expression of EEPD1 mRNAincreases expression 19482888
C006253 pirinixic acid pirinixic acid affects the expression of EEPD1 mRNAaffects expression 19136022
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of EEPD1 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.906195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.7117620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.7116434500
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.1118218290 20041841 18057881
MESH:D001281 Atrial Fibrillation Amiodarone 4.1319698954 18651412
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 10.1919483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.1919483382
MESH:D001943 Breast Neoplasms Calcitriol 2.5711237771
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.993084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 2.991701930 17173139 20935162 20007298 6705139
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.6911237771
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9819225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.5518974383
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.674080065
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.1219739265 18071297 12540782 16177239 11739529 11461765 10915739 19416960 14550746 10774834 11287661 17906064 11529661 14725611 12153990 19085960 19923254 11834606 11743745 12958197 2444490 16109766 17562736 11421492 18713872 17522070 12594235 14986274 19420014 15968718 16393943 12705907 12392966 16227642 19164858 16781746 19370779 16081117 15619225 10663392 16485898
MESH:D056486 Drug-Induced Liver Injury Amiodarone 4.1218218290 15265979
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004421 Dystonia Phenobarbital 4.361851702
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3115138306
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.533659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.393922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0320417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.836401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.677750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.483659116
MESH:D005234 Fatty Liver Amiodarone 8.9114986274
MESH:D005234 Fatty Liver pirinixic acid 8.9119236843 20131406
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006529 Hepatomegaly Amiodarone 17.0815265979
MESH:D006529 Hepatomegaly Phenobarbital 17.0816109766
MESH:D006529 Hepatomegaly pirinixic acid 17.0819772884 16221962 19176532 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.208137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D007037 Hypothyroidism Amiodarone 4.9318020914 17991464
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007674 Kidney Diseases Acetaminophen 2.3612587719 15629191
MESH:D008064 Lipidoses Amiodarone 3.7317567588 15342952
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0521047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 4.1516610002 19784758 11587558 12969438 12587719 19460945 16611625 19014921
MESH:D008107 Liver Diseases Phenobarbital 4.1519363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008113 Liver Neoplasms Phenobarbital 4.8019812893 15975961 19073162 19482888 21047994 8742319
MESH:D008113 Liver Neoplasms pirinixic acid 4.8016377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.882563599 17172636 18308698 1399818 6150874
MESH:D008133 Long QT Syndrome Amiodarone 3.8217391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.5712587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.0018516814
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009181 Mycoses Amiodarone 5.4217974566 12754197
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.9417484760
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010018 Osteomalacia Phenobarbital 4.8317016548
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5816965848
MESH:D011230 Precancerous Conditions Phenobarbital 3.912563599
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.2415572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4916289102 18247401 12479363 15754350 16644109
MESH:D019310 Pseudolymphoma Phenobarbital 5.0212752131
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9512490602 11597910 12832656
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012640 Seizures Phenobarbital 2.8911442880 3137016 16876388 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.286407741
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.5518724381
MESH:D013276 Stomach Ulcer Amiodarone 3.6418087811
MESH:D013610 Tachycardia Amiodarone 4.6711238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.5719225199
MESH:D013959 Thyroid Diseases Amiodarone 5.2819731979
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.291399818
MESH:D013971 Thyrotoxicosis Amiodarone 5.2819584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 4.6511989578 17467628
MESH:D014581 Urticaria Acetaminophen 3.3310982225
No data
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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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