AutismKB 2.0

Annotation Detail for IMPDH1


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Basic Information Top
Gene Symbol:IMPDH1 ( DKFZp781N0678,IMPD,IMPD1,LCA11,RP10,sWSS2608 )
Gene Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 1
Band: 7q32.1
Quick LinksEntrez ID:3614; OMIM: 146690; Uniprot ID:IMDH1_HUMAN; ENSEMBL ID: ENSG00000106348; HGNC ID: 6052
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-841purine nucleotides de novo biosynthesis II
PWY-6353purine nucleotides degradation II (aerobic)
Pathway IDPathway Name
hsa00230Purine metabolism
hsa00983Drug metabolism - other enzymes
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of nucleotides
No data
Pathway IDPathway Name
P02738De novo purine biosynthesis
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1705Retinitis pigmentosa
2178Retinal disease
2234Amaurosis congenita of leber I
No data
No data
Desease Name
Retinitis pigmentosa-10
Leber congenital amaurosis 11
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of IMPDH1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of IMPDH1 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of IMPDH1 mRNAaffects expression 21346803
D000082 Acetaminophen [Dietary Carbohydrates co-treated with Acetaminophen] results in increased expression of IMPDH1 mRNAaffects cotreatment|increases expression 17093179
D004040 Dietary Carbohydrates [Dietary Carbohydrates co-treated with Acetaminophen] results in increased expression of IMPDH1 mRNAaffects cotreatment|increases expression 17093179
C030589 methylmercury cysteine methylmercury cysteine results in increased expression of IMPDH1 mRNAincreases expression 19465457
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of IMPDH1 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.347525203
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.8816434500
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4319483382
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7116705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7116705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.713084413
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 7.9114694615
MESH:D002386 Cataract Acetaminophen 7.9110977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.956135515
MESH:D002779 Cholestasis pirinixic acid 3.0319176532
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.4115095906
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.1218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.1218551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.5821346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.5821346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 9.5821346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.5815619225 15968718 10774834 17522070 12540782 14725611 11529661 17906064 16393943 11461765 19923254 11834606 12594235 18071297 2444490 19420014 17562736 16109766 19370779 16081117 11739529 14986274 18713872 16227642 16485898 11421492 10663392 16177239 14550746 16781746 11743745 12705907 19164858 19085960 12153990 19416960 12392966 10915739 19739265 11287661 12958197
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004487 Edema pirinixic acid 2.7612083418
MESH:D005234 Fatty Liver pirinixic acid 3.0419236843 20131406
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006529 Hepatomegaly pirinixic acid 3.3519772884 16221962 19176532 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D007674 Kidney Diseases Acetaminophen 2.3412587719 15629191
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.1516705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.1516705839
MESH:D057130 Leber Congenital Amaurosis marker/mechanism
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6811587558 19014921 16610002 19460945 12587719 19784758 16611625 12969438
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.707678174
MESH:D008113 Liver Neoplasms pirinixic acid 4.7016377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.702876786 2876784 6135515
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.7018551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.707678174 18551238
MESH:D009369 Neoplasms pirinixic acid 2.0617405874
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 16.7516049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 16.7516049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 16.7514694615
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D012174 Retinitis Pigmentosa marker/mechanism
MESH:D012640 Seizures 2,4-dinitrotoluene 6.4718551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.4718551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3216049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3216049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.3510091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.3510091137
MESH:D014581 Urticaria Acetaminophen 3.2810982225
Pathway ID Pathway Name
KEGG:00983 Drug metabolism - other enzymes
KEGG:01100 Metabolic pathways
REACT:1698 Metabolism of nucleotides
KEGG:00230 Purine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA29862
    • No data
    Releated disease ID Related disease Name
    PA444773Leukopenia
    PA446116Inflammatory Bowel Diseases
    PA133888799Organ Transplantation
    PA134850491Transplantation
    Releated drug ID Related drug Name
    PA448515azathioprine
    PA450566mycophenolate mofetil
    PA164748728mycophenolic acid
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00157 - NADH Dietary supplement;Micronutrient
    DB00688 antagonist Mycophenolate mofetil Antineoplastic Agents;Enzyme Inhibitors;Dermatologic Agents;Immunosuppressive Agents
    DB00811 antagonist Rebetron (Schering-Plough) Antiviral Agents;Antimetabolites
    DB01024 antagonist Mycophenolic acid Enzyme Inhibitors;Antibiotics, Antineoplastic
    DB03948 - 6-Chloropurine Riboside, 5'-Monophosphate
    No data
    No data
    No data

    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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