AutismKB 2.0

Annotation Detail for NEB


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Basic Information Top
Gene Symbol:NEB ( DKFZp686C1456,FLJ11505,FLJ36536,FLJ39568,FLJ39584,NEB177D,NEM2 )
Gene Full Name: nebulin
Band: 2q23.3
Quick LinksEntrez ID:4703; OMIM: 161650; Uniprot ID:NEBU_HUMAN; ENSEMBL ID: ENSG00000183091; HGNC ID: 7720
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Muscle contraction
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
1849Myopathies, Nemaline
No data
No data
Desease Name
Nemaline myopathy 2, autosomal recessive
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of NEB mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in decreased expression of NEB mRNAdecreases expression 20106945
D004958 Estradiol Estradiol results in decreased expression of NEB mRNAdecreases expression 20106945
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of NEB mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of NEB mRNAdecreases expression 19482888
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of NEB mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of NEB mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.886195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.8811752688 14514962 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Estradiol 2.1611473722
MESH:D018248 Adenoma, Liver Cell Phenobarbital 20.1817620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 20.1816434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 20.1816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Estradiol 1.9117289903 17261762 12948864 16675129 14630087 17018787 19861407 18497071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9120435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.9316111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.753084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.7516924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.7517173139 1701930 20007298 6705139 20935162
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.2718566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.674080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Cyclosporine 8.5319486331
MESH:D002779 Cholestasis pirinixic acid 8.5319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 15340226 15668235 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.7019279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8110663392 11421492 18713872 17522070 17562736 11287661 15619225 19739265 19923254 19416960 14550746 14725611 11834606 16081117 19420014 15968718 11743745 11461765 11529661 18071297 16177239 10915739 11739529 12705907 16227642 16109766 12594235 17906064 2444490 16781746 10774834 16393943 16485898 14986274 19164858 12540782 12153990 12958197 19370779 12392966 19085960
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8120420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004421 Dystonia Phenobarbital 4.361851702
MESH:D004487 Edema pirinixic acid 7.6312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.6311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D016889 Endometrial Neoplasms Estradiol 3.1719148513 11473722 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.533659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.393922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0320417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.836401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.677750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.483659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Cyclosporine 8.6619224547
MESH:D005234 Fatty Liver pirinixic acid 8.6619236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Cyclosporine 9.9112168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.9120067830
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Phenobarbital 16.9616109766
MESH:D006529 Hepatomegaly pirinixic acid 16.9619176532 16221962 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 16.9615340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.5515709030
MESH:D019584 Hot Flashes Estradiol 4.2717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 8697196 16959395 16354765 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006973 Hypertension Cyclosporine 5.2810903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2818670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.8416627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.8416306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Acetaminophen 10.9412587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.9418776723 8314463 10903974
MESH:D007674 Kidney Diseases Estradiol 10.9415618244
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1812371664
MESH:D007680 Kidney Neoplasms Estradiol 8.1815610895
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0521047994
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5414716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5415474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5412878042
MESH:D008107 Liver Diseases Acetaminophen 4.1519784758 16611625 11587558 16610002 19460945 12969438 12587719 19014921
MESH:D008107 Liver Diseases Phenobarbital 4.1519363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008113 Liver Neoplasms Phenobarbital 7.9321047994 8742319 19812893 15975961 19073162 19482888
MESH:D008113 Liver Neoplasms pirinixic acid 7.9315890375 16377806 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9316984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.4017172636 6150874 1399818 2563599 18308698
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4012151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7411807958 11408345 17203775 16891317
MESH:D020149 Manganese Poisoning Estradiol 5.0019453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 9.0616810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 9.0616411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.9417484760
MESH:D017696 Myopathies, Nemaline marker/mechanism
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1917289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5719348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 10.7716427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.7714600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010018 Osteomalacia Phenobarbital 4.8317016548
MESH:D010051 Ovarian Neoplasms Estradiol 2.2919401270
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5816965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.9412371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.942563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511118676 11896295 11222880 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2120887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0316740699
MESH:D019310 Pseudolymphoma Phenobarbital 5.0212752131
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures Phenobarbital 2.894039156 3137016 16876388 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.286407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.291399818
MESH:D013978 Tibial Fractures Estradiol 5.2119048282
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
Pathway ID Pathway Name
REACT:17044 Muscle contraction
Pharmacogenomics Knowledge Base Top
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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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