AutismKB 2.0

Annotation Detail for PHACTR1


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Basic Information Top
Gene Symbol:PHACTR1 ( KIAA1733,MGC126575,MGC126577,RPEL,RPEL1,dJ257A7.2 )
Gene Full Name: phosphatase and actin regulator 1
Band: 6p24.1
Quick LinksEntrez ID:221692; OMIM: 608723; Uniprot ID:PHAR1_HUMAN; ENSEMBL ID: ENSG00000112137; HGNC ID: 20990
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CARDIOVASCULAR
CHEMDEPENDENCY
myocardial infarction (early onset)
smoking cessation
METABOLIC
hip geometry
Desease Name
Hip geometry
Myocardial infarction (early onset)
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PHACTR1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PHACTR1 mRNAaffects expression 17562736
D003024 Clozapine Clozapine results in increased expression of PHACTR1 mRNAincreases expression 14647396
D016572 Cyclosporine Cyclosporine results in increased expression of PHACTR1 mRNAincreases expression 20106945
D006220 Haloperidol Haloperidol results in increased expression of PHACTR1 mRNAincreases expression 14647396
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000380 Agranulocytosis Clozapine 5.5416160616 14617031 12649775
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 2.1318445737
MESH:D001321 Autistic Disorder Haloperidol 2.1319368416 18080171
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 2.9516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.953084413
MESH:D002375 Catalepsy Haloperidol 5.4515215559 1977408
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D002779 Cholestasis Cyclosporine 3.1719486331
MESH:D003072 Cognition Disorders Clozapine 5.4517123785
MESH:D003324 Coronary Artery Disease marker/mechanism 21378990
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D016757 Death, Sudden, Cardiac Haloperidol 5.2520210726
MESH:D003704 Dementia Haloperidol 4.9511575062
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 3.0416402076
MESH:D006970 Disorders of Excessive Somnolence Clozapine 6.1715331141
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 3.9918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9917522070 19416960 16177239 11743745 11287661 16393943 19923254 11461765 12958197 19370779 19739265 14725611 17906064 18713872 16081117 14550746 14986274 12540782 2444490 16485898 12705907 12153990 15619225 12594235 11421492 12392966 16227642 11739529 18071297 19164858 11834606 17562736 16109766 11529661 19420014 10774834 10915739 10663392 19085960 16781746 15968718
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D050171 Dyslipidemias Clozapine 4.4316402076
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006948 Hyperkinesis Clozapine 5.4516046005
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Acetaminophen 6.4112587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.418314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.3016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
MESH:D008064 Lipidoses Clozapine 4.2117567588
MESH:D008107 Liver Diseases Acetaminophen 1.6919784758 12587719 16611625 16610002 12969438 11587558 19014921 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D001523 Mental Disorders Clozapine 10.2216856516
MESH:D001523 Mental Disorders Haloperidol 10.2216856516
MESH:D024821 Metabolic Syndrome X Clozapine 4.7219142101
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009203 Myocardial Infarction marker/mechanism 19198609
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity Clozapine 3.0819142110 18515891
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7816049721 12819281
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D011595 Psychomotor Agitation Haloperidol 5.4411575062
MESH:D011618 Psychotic Disorders Clozapine 9.9915331141
MESH:D011618 Psychotic Disorders Haloperidol 9.9911575062
MESH:D012559 Schizophrenia Clozapine 4.2316141801 20521326 18855531 20107430 20168265 11763009 17726453 20452607 11151749 18806925 19369910 17123785 20580759 17667964 20521320
MESH:D012559 Schizophrenia Haloperidol 4.2320107430 1830565 18513383 19369910
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7618551238
MESH:D017180 Tachycardia, Ventricular Haloperidol 5.1520210726
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D015430 Weight Gain Clozapine 4.7916141801 17502770 20107430 16402076 20521320 20564506
MESH:D015431 Weight Loss Clozapine 5.6217933447
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134923900
    • No data
    Releated disease ID Related disease Name
    PA445019Myocardial Infarction
    PA445019Myocardial Infarction
    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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