AutismKB 2.0

Annotation Detail for LARGE


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Basic Information Top
Gene Symbol:LARGE ( KIAA0609,MDC1D )
Gene Full Name: like-glycosyltransferase
Band: 22q12.3
Quick LinksEntrez ID:9215; OMIM: 603590; Uniprot ID:LARGE_HUMAN; ENSEMBL ID: ENSG00000133424; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of glycan/glycoprotein metabolism
H00120Dystroglycanopathy
Genetic disorders
No data
No data
No data
Desease Name
Muscular dystrophy-dystroglycanopathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of LARGE mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of LARGE proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of LARGE mRNAdecreases expression 20064835
20106945
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of LARGE geneincreases mutagenesis 16495775
D009151 Mustard Gas Mustard Gas affects the expression of LARGE mRNAaffects expression 15651846
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of LARGE mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of LARGE mRNAincreases expression 19482888
C006253 pirinixic acid pirinixic acid results in increased expression of LARGE mRNAincreases expression 18301758
C047426 venlafaxine venlafaxine results in decreased expression of LARGE mRNAdecreases expression 16341940
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.786195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0320127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 7.386695378
MESH:D000236 Adenoma Ethylnitrosourea 7.386695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.2717620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.2716434500
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001249 Asthma Mustard Gas 2.7710378619
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001768 Blister Mustard Gas 5.5019167455
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3919483382
MESH:D001927 Brain Diseases Ethylnitrosourea 5.1114991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.5216436596 16357521 16651633 18412241 15144691
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0117474063 20146248
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.5015286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.3517687719 10378619
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.733084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.7312907637 12619106 21507988
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.7317173139 20007298 20935162 6705139 1701930
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 3.8816003739
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.564080065
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.3617160924
MESH:D002779 Cholestasis pirinixic acid 3.0019176532
MESH:D003866 Depressive Disorder venlafaxine 4.9920305041
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6415619225 10915739 12540782 17522070 19164858 15968718 12153990 16081117 19420014 16781746 10774834 14986274 2444490 11287661 10663392 12958197 14550746 19416960 16485898 16177239 16227642 11421492 19923254 16109766 17562736 17906064 19370779 18071297 12594235 11461765 16393943 12705907 18713872 14725611 12392966 11834606 11739529 19739265 11529661 19085960 11743745
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004421 Dystonia Phenobarbital 4.261851702
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.3618357618
MESH:D004487 Edema Mustard Gas 7.6911428647 9260866 11402378 11428631
MESH:D004487 Edema pirinixic acid 7.6912083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.413659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.253922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.766401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.567750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.363659116
MESH:D004890 Erythema Mustard Gas 5.509357497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005234 Fatty Liver pirinixic acid 3.0120131406 19236843
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005909 Glioblastoma Ethylnitrosourea 3.9816436596
MESH:D005910 Glioma Ethylnitrosourea 3.5716357521 16651633 18412241
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7720471113
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006529 Hepatomegaly Phenobarbital 9.5216109766
MESH:D006529 Hepatomegaly pirinixic acid 9.5219176532 16221962 18467677 19772884
MESH:D019584 Hot Flashes venlafaxine 5.9114716179
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D007249 Inflammation Mustard Gas 2.898975870 16001271 17524151 11428631 11428647 11402378 9260866 9357497 11428620
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007674 Kidney Diseases Acetaminophen 2.3212587719 15629191
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.1317379185
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0121047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 4.1016611625 19784758 11587558 12969438 12587719 19460945 16610002 19014921
MESH:D008107 Liver Diseases Phenobarbital 4.1019363144
MESH:D017114 Liver Failure, Acute Acetaminophen 10.8116871587 17185352
MESH:D017114 Liver Failure, Acute venlafaxine 10.8119857765
MESH:D008113 Liver Neoplasms Aflatoxin B1 11.3618177683 2125692 15890375 9163691
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.3621137059 20195826
MESH:D008113 Liver Neoplasms Phenobarbital 11.3619812893 8742319 19073162 21047994 15975961 19482888
MESH:D008113 Liver Neoplasms pirinixic acid 11.3620007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.498603461
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.496150874 17172636 18308698 1399818 2563599
MESH:D008171 Lung Diseases Mustard Gas 3.6018161513 18702808
MESH:D008175 Lung Neoplasms Aflatoxin B1 5.1014755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.1018816296 20869020 18569708 17053015 20464547 20064080 6695378 20135361 18520028
MESH:D008175 Lung Neoplasms Ethylnitrosourea 5.106695378 16019985 17703301 16271038
MESH:D008175 Lung Neoplasms Mustard Gas 5.108781369 3148597
MESH:D008223 Lymphoma Ethylnitrosourea 4.1115790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.3515375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.6510838139 10767621 18041768
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008579 Meningioma Ethylnitrosourea 6.3617943659
MESH:D001523 Mental Disorders venlafaxine 5.1916856516
MESH:D008881 Migraine Disorders venlafaxine 4.9318803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
OMIM:608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 marker/mechanism
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8117484760
MESH:D009369 Neoplasms Benzo(a)pyrene 5.1711141357
MESH:D009369 Neoplasms pirinixic acid 5.1717405874
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.7116707424
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.7516003739 17160924 16651423
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009503 Neutropenia Mustard Gas 4.2316761898 7688884
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009771 Obsessive-Compulsive Disorder venlafaxine 5.9117503984
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.3617160924
MESH:D010018 Osteomalacia Phenobarbital 4.7017016548
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5616965848
MESH:D011041 Poisoning Mustard Gas 4.0615727166
MESH:D011230 Precancerous Conditions Phenobarbital 3.842563599
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9317292933
MESH:D011537 Pruritus Mustard Gas 4.4318058305
MESH:D019310 Pseudolymphoma Phenobarbital 4.8712752131
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0017894541 17266442 17620002 17720292 10334151
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D012640 Seizures Phenobarbital 2.8416876388 3137016 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.166407741
MESH:D012871 Skin Diseases Mustard Gas 2.7616961503 12880345 15451306
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4610029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.5015790496
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.231399818
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2517053015
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D058494 Walker-Warburg Syndrome marker/mechanism
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30296
    • No data
    Releated disease ID Related disease Name
    PA447216Schizophrenia
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

    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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