AutismKB 2.0

Annotation Detail for NUMBL


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Basic Information Top
Gene Symbol:NUMBL ( CAG3A,CTG3a,NBL,NUMB-R,NUMBLIKE,NUMBR,TNRC23 )
Gene Full Name: numb homolog (Drosophila)-like
Band: 19q13.2
Quick LinksEntrez ID:9253; OMIM: 604018; Uniprot ID:NUMBL_HUMAN; ENSEMBL ID: ENSG00000105245; HGNC ID: 8061
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04330Notch signaling pathway
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of NUMBL mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of NUMBL mRNAdecreases expression 20018196
D003024 Clozapine Clozapine results in decreased expression of NUMBL mRNAdecreases expression 18797397
D006220 Haloperidol Haloperidol results in decreased expression of NUMBL mRNAdecreases expression 18797397
C076029 olanzapine olanzapine results in decreased expression of NUMBL mRNAdecreases expression 18797397
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of NUMBL mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of NUMBL mRNAaffects binding|decreases expression|increases activity 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000380 Agranulocytosis Clozapine 5.4716160616 14617031 12649775
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001321 Autistic Disorder Acetaminophen 2.4318445737
MESH:D001321 Autistic Disorder Haloperidol 2.4319368416 18080171
MESH:D001321 Autistic Disorder olanzapine 2.4317069543 18685284
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002375 Catalepsy Haloperidol 5.3715215559 1977408
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002389 Catatonia olanzapine 6.7716772815 18071103
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9320889678
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D003072 Cognition Disorders Clozapine 5.3817123785
MESH:D016757 Death, Sudden, Cardiac Haloperidol 5.1920210726
MESH:D003704 Dementia Haloperidol 4.9011575062
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D002658 Developmental Disabilities olanzapine 4.8917069543
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 3.0316402076
MESH:D006970 Disorders of Excessive Somnolence Clozapine 6.0715331141
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6511834606 18713872 19416960 19085960 17522070 19164858 11461765 16393943 19739265 19420014 12958197 15968718 16227642 11743745 11287661 16485898 16081117 11739529 10663392 12594235 14725611 11529661 16781746 17562736 17906064 16177239 12153990 10774834 14986274 14550746 10915739 12392966 12705907 15619225 18071297 2444490 11421492 19923254 16109766 19370779 12540782
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D050171 Dyslipidemias Clozapine 4.4016402076
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005234 Fatty Liver pirinixic acid 3.0919236843 20131406
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4119772884 19176532 18467677 16221962
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006948 Hyperkinesis Clozapine 5.3716046005
MESH:D006963 Hyperphagia olanzapine 6.6917933447
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007674 Kidney Diseases Acetaminophen 2.3612587719 15629191
MESH:D008064 Lipidoses Clozapine 4.1817567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6911587558 16610002 19460945 16611625 12587719 19784758 12969438 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 1.9116377806 20007298 15890375
MESH:D008133 Long QT Syndrome olanzapine 4.9720210726
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D001523 Mental Disorders Clozapine 16.3316856516
MESH:D001523 Mental Disorders Haloperidol 16.3316856516
MESH:D001523 Mental Disorders olanzapine 16.3316856516
MESH:D008659 Metabolic Diseases olanzapine 5.7219142110
MESH:D024821 Metabolic Syndrome X Clozapine 4.6819142101
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009765 Obesity Clozapine 8.0418515891 19142110
MESH:D009765 Obesity olanzapine 8.0418515891
MESH:D009765 Obesity pirinixic acid 8.0420558911
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D011595 Psychomotor Agitation Haloperidol 13.2511575062
MESH:D011595 Psychomotor Agitation olanzapine 13.2518685284
MESH:D011618 Psychotic Disorders Clozapine 9.9015331141
MESH:D011618 Psychotic Disorders Haloperidol 9.9011575062
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012559 Schizophrenia Clozapine 6.1318855531 20168265 17726453 19369910 17667964 18806925 11763009 11151749 20107430 17123785 20580759 20452607 20521326 16141801 20521320
MESH:D012559 Schizophrenia Haloperidol 6.1318513383 19369910 20107430 1830565
MESH:D012559 Schizophrenia olanzapine 6.1320521326 20107430 17726453
MESH:D017180 Tachycardia, Ventricular Haloperidol 12.2620210726
MESH:D017180 Tachycardia, Ventricular olanzapine 12.2620210726
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D015430 Weight Gain Clozapine 11.3220564506 20107430 20521320 17502770 16141801 16402076
MESH:D015430 Weight Gain olanzapine 11.3217933447 19434072 20107430
MESH:D015431 Weight Loss Clozapine 5.5417933447
Pathway ID Pathway Name
KEGG:04330 Notch signaling pathway
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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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