AutismKB 2.0

Annotation Detail for LLGL1


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Basic Information Top
Gene Symbol:LLGL1 ( DLG4,HUGL,HUGL-1,HUGL1,LLGL )
Gene Full Name: lethal giant larvae homolog 1 (Drosophila)
Band: 17p11.2
Quick LinksEntrez ID:3996; OMIM: 600966; Uniprot ID:L2GL1_HUMAN; ENSEMBL ID: ENSG00000131899; HGNC ID: 6628
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1770Melanoma
1843Metastasis to lymph nodes
1961Endometrium cancer
2053Colon cancer
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of LLGL1 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of LLGL1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of LLGL1 mRNAaffects expression 16483693
C121718 dicyclanil dicyclanil results in increased expression of LLGL1 mRNAincreases expression 15664270
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of LLGL1 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D018248 Adenoma, Liver Cell dicyclanil 12.4017162532
MESH:D018248 Adenoma, Liver Cell pirinixic acid 12.4016434500
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:D001943 Breast Neoplasms marker/mechanism 16298037
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.933581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.933084413
MESH:D006528 Carcinoma, Hepatocellular dicyclanil 4.9317162532
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.997505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.7219486331 9022650
MESH:D002779 Cholestasis pirinixic acid 8.7219176532
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2811298694 18759878 14531868 12868966 11906362 8156756 8970840 2524372
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 3.9918289764 16192314 6679447 1440618 9022650 18692083 9328219 9653073 8291058 18648102 6482804 7440962 11289319
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9912594235 19085960 14550746 15968718 19164858 12705907 12540782 16227642 12153990 10915739 18713872 14986274 16393943 11461765 16485898 15619225 11529661 11834606 17562736 17906064 19370779 19739265 2444490 16081117 11739529 17522070 19923254 12958197 11743745 16781746 10663392 18071297 12392966 16177239 10774834 14725611 11421492 19420014 19416960 16109766 11287661
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
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 19772884 18467677 19176532
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 5.638074119 9022650
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
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 1.6919014921 19784758 16611625 12969438 12587719 19460945 11587558 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008113 Liver Neoplasms dicyclanil 5.2420118626
MESH:D008113 Liver Neoplasms pirinixic acid 5.2420007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.733712494 598648 1399818 6587162
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 3.157505956 1399818 6587162 6582329 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.398074119
MESH:D014581 Urticaria Acetaminophen 3.3810982225
Pathway ID Pathway Name
KEGG:04724 Glutamatergic synapse
KEGG:05016 Huntington's disease
KEGG:04530 Tight junction
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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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