AutismKB 2.0

Annotation Detail for MTMR12


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Basic Information Top
Gene Symbol:MTMR12 ( 3-PAP,PIP3AP )
Gene Full Name: myotubularin related protein 12
Band: 5p13.3
Quick LinksEntrez ID:54545; OMIM: 606501; Uniprot ID:MTMRC_HUMAN; ENSEMBL ID: ENSG00000150712; HGNC ID: 18191
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
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of MTMR12 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of MTMR12 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 affects the expression of MTMR12 mRNAaffects expression 20382639
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 MTMR12 mRNAdecreases expression 19150397
D004040 Dietary Carbohydrates Dietary Carbohydrates results in decreased expression of MTMR12 mRNAdecreases expression 17490981
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MTMR12 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.631440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 2.947296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.943084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.437505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4320889678
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.7219486331 9022650
MESH:D002779 Cholestasis pirinixic acid 8.7219176532
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.282524372 18759878 11906362 8156756 14531868 12868966 8970840 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.893621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.9918692083 8291058 18289764 6482804 18648102 9653073 6679447 16192314 1440618 11289319 9328219 9022650 7440962
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9919420014 17906064 10774834 16081117 19370779 18071297 12392966 12705907 15619225 15968718 17562736 11461765 16485898 11287661 2444490 19085960 16393943 10915739 11743745 19416960 17522070 18713872 12540782 16781746 11529661 12153990 19164858 16177239 11421492 11834606 14550746 16109766 12594235 14986274 12958197 14725611 19923254 19739265 11739529 16227642 10663392
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.633581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6320426865
MESH:D005234 Fatty Liver pirinixic acid 3.1419236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006529 Hepatomegaly pirinixic acid 3.4816221962 18467677 19176532 19772884
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.639022650 8074119
MESH:D007674 Kidney Diseases Acetaminophen 2.3812587719 15629191
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.276582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4015034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6916611625 19460945 11587558 19784758 19014921 12969438 16610002 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 1.9220007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.736587162 1399818 3712494 598648
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.583581430
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.136679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.776482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.151399818 6587162 3712494 7505956 6582329
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.398074119
MESH:D014581 Urticaria Acetaminophen 3.3810982225
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA128394670
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

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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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