AutismKB 2.0

Annotation Detail for NBEAL1


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Basic Information Top
Gene Symbol:NBEAL1 ( A530083I02Rik,ALS2CR16,ALS2CR17,FLJ22838,FLJ26555,MGC164581,MGC168834 )
Gene Full Name: neurobeachin-like 1
Band: 2q33.2
Quick LinksEntrez ID:65065; OMIM: 609816; Uniprot ID:NBEL1_HUMAN; ENSEMBL ID: ENSG00000144426; HGNC ID: 20681
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1860Brain tumor
2214Malignant glioma
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 increased expression of NBEAL1 mRNAincreases expression 18648102
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of NBEAL1 mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of NBEAL1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.238875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4119490988
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.983712494
MESH:D000550 Amblyopia Valproic Acid 6.1017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9417497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9819232924 17688650 18558336 18177632 20603192 18775368 19460635 16609825 15238991 17157402 18985861 18316065 17507914 18940202 18396377
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.891440618 11289319
MESH:D001714 Bipolar Disorder Valproic Acid 3.2620046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.668888407
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.783581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.847296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.057505956
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8320734317
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.4719486331 9022650
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.918888407 16575769 17688650
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.4411298694 8156756 2524372 18759878 14531868 12868966 8970840 11906362
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.022952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.268291058 16192314 18648102 9653073 18692083 6679447 18289764 1440618 7440962 11289319 6482804 9328219 9022650
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.2619641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.581851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.8117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.783922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.1218234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 4.007562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.957750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.813659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005234 Fatty Liver Valproic Acid 3.7819224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.7516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.718888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.896705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.577505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.106705139
MESH:D006849 Hydrocephalus Valproic Acid 5.6117688650
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5915034207
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.2816612254
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.898074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.356582329
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2017596541 16294345
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4415034207 9327722
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.78598648 6587162 3712494 1399818
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.1317228818
MESH:D008881 Migraine Disorders Valproic Acid 3.5018765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.518888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3717596541
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.613581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 8.166679447
MESH:D009436 Neural Tube Defects Valproic Acid 8.1616359493 8888407
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.876482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.893988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.137296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.346228378
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.5720603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.4112752131 11422049
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.703692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7019155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.0211044598 11738929 14763951 17978042 1511512 15475178 3137016 16876388
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1319490988
MESH:D013226 Status Epilepticus Valproic Acid 5.4112833885
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.223712494 6587162 7505956 6582329 1399818
MESH:D014178 Translocation, Genetic Valproic Acid 6.1017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.263119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.418074119
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.308888407
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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