AutismKB 2.0

Annotation Detail for PLEKHA1


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Basic Information Top
Gene Symbol:PLEKHA1 ( TAPP1 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Band: 10q26.13
Quick LinksEntrez ID:59338; OMIM: 607772; Uniprot ID:PKHA1_HUMAN; ENSEMBL ID: ENSG00000107679; HGNC ID: 14335
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200098Class I PI3K signaling events
No data
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
1840Macular degeneration
Desease Name
height
DEVELOPMENTAL
Desease Name
Height
Desease Name
Age-related maculopathy, susceptibility to
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PLEKHA1 mRNAaffects expression 17562736
D006710 Homocysteine Homocysteine results in decreased expression of PLEKHA1 mRNAdecreases expression 17326132
D010634 Phenobarbital Phenobarbital affects the expression of PLEKHA1 mRNAaffects expression 19136022
C006253 pirinixic acid pirinixic acid affects the expression of PLEKHA1 mRNAaffects expression 19136022
C006253 pirinixic acid pirinixic acid results in decreased expression of PLEKHA1 mRNAdecreases expression 17426115
C004648 testosterone enanthate testosterone enanthate affects the expression of PLEKHA1 mRNAaffects expression 17440010
D014635 Valproic Acid Valproic Acid results in increased expression of PLEKHA1 mRNAincreases expression 19101580
D014810 Vitamin E Vitamin E results in decreased expression of PLEKHA1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.886195326
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.888875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2119490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.4817620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.4816434500
MESH:D000550 Amblyopia Valproic Acid 5.6817688650
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.7917497229
MESH:D001321 Autistic Disorder Acetaminophen 2.2818445737
MESH:D001321 Autistic Disorder Homocysteine 2.2816297937 20468076
MESH:D001321 Autistic Disorder Valproic Acid 2.2818316065 20603192 17507914 18985861 18396377 15238991 16609825 18558336 17688650 18940202 17157402 19232924 18177632 19460635 18775368
MESH:D001714 Bipolar Disorder Valproic Acid 3.2017594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4319483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.578888407
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2916050911
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.983084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 2.9817173139 1701930 6705139 20935162 20007298
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.614080065
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7920734317
MESH:D002779 Cholestasis pirinixic acid 3.0319176532
MESH:D003324 Coronary Artery Disease Homocysteine 3.8316379339
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.7816575769 17688650 8888407
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.7819769572
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.0112594235 16177239 19420014 17906064 12153990 18071297 17562736 14986274 10774834 19085960 16485898 15968718 14550746 16109766 19923254 16781746 15619225 19416960 17522070 18713872 16393943 11739529 19164858 12958197 19370779 16081117 11421492 16227642 11529661 11834606 12392966 11287661 12540782 19739265 10663392 12705907 2444490 11743745 11461765 14725611 10915739
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.0119641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004421 Dystonia Phenobarbital 11.471851702
MESH:D004421 Dystonia Valproic Acid 11.471851702
MESH:C538011 Eales disease Vitamin E 5.159068938
MESH:D004487 Edema pirinixic acid 2.7612083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 12.023659116
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 12.0217275665 3659116
MESH:D004828 Epilepsies, Partial Phenobarbital 11.503922381 11558140
MESH:D004828 Epilepsies, Partial Valproic Acid 11.503922381 16628512
MESH:D004827 Epilepsy Phenobarbital 7.0820417680
MESH:D004827 Epilepsy Valproic Acid 7.0818234410 20417680
MESH:D004832 Epilepsy, Absence Phenobarbital 9.706401628
MESH:D004832 Epilepsy, Absence Valproic Acid 9.707562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 12.537750514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 12.537750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 11.843659116
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 11.843659116
MESH:D017889 Exfoliation Syndrome Homocysteine 6.1016504073
MESH:D005234 Fatty Liver pirinixic acid 8.6819236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 8.6819224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.3316575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.4618558336 8888407
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D005901 Glaucoma Homocysteine 5.5916504073
MESH:D006330 Heart Defects, Congenital Homocysteine 7.6219638421
MESH:D006330 Heart Defects, Congenital Vitamin E 7.6216080930
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006529 Hepatomegaly Phenobarbital 9.7016109766
MESH:D006529 Hepatomegaly pirinixic acid 9.7018467677 16221962 19176532 19772884
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7816490937 16863852
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.1917440010
MESH:D019584 Hot Flashes Vitamin E 4.4114716179
MESH:D006849 Hydrocephalus Valproic Acid 5.2617688650
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D020138 Hyperhomocysteinemia Homocysteine 4.9518234410 17369066 17292331
MESH:D007251 Influenza, Human Vitamin E 4.6616624496
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D007674 Kidney Diseases Acetaminophen 6.4515629191 12587719
MESH:D007674 Kidney Diseases Vitamin E 6.4512488133
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1917596541 16294345
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0321047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4515474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4516169303
MESH:D008107 Liver Diseases Acetaminophen 4.1312969438 16611625 19014921 12587719 19784758 19460945 16610002 11587558
MESH:D008107 Liver Diseases Phenobarbital 4.1319363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5016871587 17185352
MESH:D008113 Liver Neoplasms Phenobarbital 4.7619482888 15975961 19812893 21047994 8742319 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 4.7620007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.866150874 17172636 2563599 1399818 18308698
MESH:D008171 Lung Diseases Vitamin E 3.3516863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7017228818
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008268 Macular Degeneration marker/mechanism
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D008591 Meningomyelocele Homocysteine 5.8916602021
MESH:D008881 Migraine Disorders Valproic Acid 3.3818765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.318888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3017596541
MESH:D009203 Myocardial Infarction Homocysteine 6.3217412321
MESH:D009203 Myocardial Infarction pirinixic acid 6.3219151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8717484760
MESH:D009369 Neoplasms pirinixic acid 2.0617405874
MESH:D009436 Neural Tube Defects Valproic Acid 3.308888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010018 Osteomalacia Phenobarbital 4.7617016548
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5716965848
MESH:D010300 Parkinson Disease Homocysteine 3.6516275827
MESH:D011230 Precancerous Conditions Phenobarbital 3.872563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2320603192
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2615084515
MESH:D019310 Pseudolymphoma Phenobarbital 13.7112752131
MESH:D019310 Pseudolymphoma Valproic Acid 13.7112752131 11422049
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4819155313
MESH:D012559 Schizophrenia Homocysteine 4.0716641680
MESH:D012559 Schizophrenia Valproic Acid 4.0719110320 15737665
MESH:D012640 Seizures Phenobarbital 6.6111442880 4039156 16876388 3137016
MESH:D012640 Seizures Valproic Acid 6.6111738929 3137016 15475178 1511512 17978042 11044598 16876388 14763951
MESH:D003294 Seizures, Febrile Phenobarbital 5.226407741
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9812833885
MESH:D020521 Stroke Vitamin E 3.7416517955
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.261399818
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
MESH:D014581 Urticaria Acetaminophen 3.2810982225
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB04272 - Citric Acid Anticoagulants;Chelating Agents
No data
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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


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