AutismKB 2.0

Annotation Detail for NEBL


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Basic Information Top
Gene Symbol:NEBL ( FLJ53769,LASP2,LNEBL,MGC119746,MGC119747 )
Gene Full Name: nebulette
Band: 10p12.31
Quick LinksEntrez ID:10529; OMIM: 605491; Uniprot ID:NEBL_HUMAN; ENSEMBL ID: ENSG00000078114; HGNC ID: 16932
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CARDIOVASCULAR
nonfamilial idiopathic dilated cardiomyopathy
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of NEBL mRNAdecreases expression 19417177
D001151 Arsenic Arsenic results in decreased expression of NEBL mRNAdecreases expression 19654921
C053541 bicalutamide bicalutamide results in increased expression of NEBL mRNAincreases expression 15638997
D016572 Cyclosporine Cyclosporine results in increased expression of NEBL mRNAincreases expression 20106945
C008493 methylselenic acid methylselenic acid results in increased expression of NEBL mRNAincreases expression 18548127
D014212 Tretinoin Tretinoin results in increased expression of NEBL mRNAincreases expression 16249480
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D018246 Adrenocortical Adenoma Arsenic 5.7317306315
MESH:D000505 Alopecia Tretinoin 3.8715955085
MESH:D020261 Arsenic Poisoning Arsenic 2.9316835338 12569548 16251483 18414634
MESH:D001169 Arthritis, Experimental Tretinoin 3.2516412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3216292516
MESH:D001249 Asthma Tretinoin 2.4216456186
MESH:D050197 Atherosclerosis Arsenic 3.4219371607 12928151
MESH:D001471 Barrett Esophagus Tretinoin 4.7816935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.9316197459 16206674
MESH:D001943 Breast Neoplasms Tretinoin 2.2416873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.0516813970
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.7515504454 17687452
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6816168501
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.8716705839
MESH:D006528 Carcinoma, Hepatocellular Arsenic 4.8716507464 17306315
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.871917145
MESH:D002294 Carcinoma, Squamous Cell Arsenic 5.0515504454 18922899 17687452
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 5.0516096774 16051514
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.3818640142
MESH:D002318 Cardiovascular Diseases Arsenic 3.6615738583 19152805 17938729
MESH:D002340 Carotid Artery Diseases Arsenic 4.6016973168 18022660
MESH:D002386 Cataract Tretinoin 3.2617460283
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.276135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.0516129372
MESH:D002779 Cholestasis Cyclosporine 3.1419486331
MESH:D002822 Choriocarcinoma Tretinoin 5.6816461808
MESH:D002972 Cleft Palate Tretinoin 2.789407595
MESH:D003092 Colitis Tretinoin 4.1217035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.839664655 10589399 9211117 17551590 9142499 16925845 14991402 9224671 9125849 8800419
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0418551238 21346803
MESH:D004489 Edema, Cardiac Tretinoin 4.9918230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3016569247
MESH:D005124 Eye Abnormalities Tretinoin 3.819664655 16938888
MESH:D005234 Fatty Liver Cyclosporine 3.1819224547
MESH:D005355 Fibrosis Cyclosporine 10.1212639820 12168785
MESH:D005355 Fibrosis Tretinoin 10.1217994277
MESH:D005534 Foot Diseases Arsenic 6.086392382
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D005909 Glioblastoma Tretinoin 3.1917312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3816096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.0414991402 9664655
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006930 Hyperalgesia Tretinoin 3.4616870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9916778211
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.7617050553
MESH:D006973 Hypertension Arsenic 5.6316076760 11953799 9931084
MESH:D006973 Hypertension Cyclosporine 5.6310903974
MESH:D006987 Hypesthesia Arsenic 6.0816093927
MESH:D007410 Intestinal Diseases Tretinoin 4.1817994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.2317551590 15992940
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007642 Keratosis Arsenic 5.4512749816 16930632
MESH:D007674 Kidney Diseases Cyclosporine 2.508314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.1816705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1812371664
MESH:D007938 Leukemia Tretinoin 2.9017143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.0216482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1217596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 8.4117339181
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 8.4117361223 16766008 17712046 17339181 16788101 17368321 17649720 16140955 19035177 17107899 16823087 17217047 17294898 16935935 19225113 17301526 19642359 15748426 19075265 16331271 16891316 19029980 12679006 9834237 17506722
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.539224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8116248980 18397230
MESH:D008107 Liver Diseases Arsenic 2.6011134558
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 5.057678174
MESH:D008113 Liver Neoplasms Arsenic 5.0516368122
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.722876786 2876784 6135515
MESH:D008175 Lung Neoplasms Arsenic 2.2119168569 17976673 17306315
MESH:D008527 Medulloblastoma Tretinoin 2.8817453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.8416940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2417596541
MESH:D017202 Myocardial Ischemia Arsenic 4.2415371236
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.327678174 18551238
MESH:D009369 Neoplasms Tretinoin 2.5416594593 16946489
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009421 Nervous System Malformations Tretinoin 4.169125849
MESH:D009436 Neural Tube Defects Arsenic 8.0716620997
MESH:D009436 Neural Tube Defects Tretinoin 8.079142499
MESH:D020078 Neurogenic Inflammation Arsenic 4.7317056641
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7416049721
MESH:D010051 Ovarian Neoplasms Arsenic 5.2717306315
MESH:D010051 Ovarian Neoplasms Tretinoin 5.2716936753
MESH:D010146 Pain Tretinoin 3.1616870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5515976015
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.5616093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.4516905509 6392382 15371236
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011471 Prostatic Neoplasms Arsenic 2.8016140617
MESH:D011471 Prostatic Neoplasms bicalutamide 2.8018487222 15638997 17914592 19011039 19240160
MESH:D011471 Prostatic Neoplasms methylselenic acid 2.8016205645
MESH:D011507 Proteinuria Arsenic 10.4721343184
MESH:D011507 Proteinuria Tretinoin 10.4716636307
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D011625 Pterygium Tretinoin 5.2616723453
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4516283617 16116481
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7418551238
MESH:D012871 Skin Diseases Arsenic 2.8117938729 16702368 19834688 17050553 15952646 18709164 6392382 16353154 17548696 16759981 17453740
MESH:D012878 Skin Neoplasms Arsenic 6.3417976673 17050553 16251483 15504454 19538983 17029826
MESH:D012878 Skin Neoplasms Tretinoin 6.3416467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2616026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.0916051514
MESH:D014376 Tuberculosis Tretinoin 3.4116040207
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.5516049721
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.5517976673 17306315 11144890 19322015 19429237 15987713 18640142
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9816129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.1316752155
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014652 Vascular Diseases Arsenic 5.2017056641
MESH:D014820 Vitiligo Tretinoin 4.4416761959
MESH:D009396 Wilms Tumor Tretinoin 4.2516287080
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
No data
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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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