AutismKB 2.0

Annotation Detail for NIPBL


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NIPBL ( CDLS,CDLS1,DKFZp434L1319,FLJ11203,FLJ12597,FLJ13354,FLJ13648,FLJ44854,IDN3,IDN3-B,Scc2 )
Gene Full Name: Nipped-B homolog (Drosophila)
Band: 5p13.2
Quick LinksEntrez ID:25836; OMIM: 608667; Uniprot ID:NIPBL_HUMAN; ENSEMBL ID: ENSG00000164190; HGNC ID: 28862
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Cornelia de Lange syndrome 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of NIPBL mRNAdecreases expression 19150397
D003010 Clorgyline Clorgyline results in increased expression of NIPBL mRNAincreases expression 19691856
D019833 Genistein Genistein results in increased expression of NIPBL mRNAincreases expression 19371625
D001556 Lindane Lindane results in increased expression of NIPBL mRNAincreases expression 17785943
D010634 Phenobarbital Phenobarbital results in decreased expression of NIPBL mRNAdecreases expression 19270015
D012402 Rotenone Rotenone results in decreased expression of NIPBL mRNAdecreases expression 19013527
D012643 Selenium Selenium results in decreased expression of NIPBL mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NIPBL mRNAincreases expression 19465110
C024746 tobacco tar tobacco tar results in decreased expression of NIPBL mRNAdecreases expression 19559774
C025643 vinclozolin vinclozolin affects the expression of NIPBL mRNAaffects expression 19015723
D014810 Vitamin E Vitamin E results in decreased expression of NIPBL mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 8.956195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.9515322242 14514962 11752688
MESH:D000230 Adenocarcinoma Genistein 2.5111473722
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.7417620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7416835633
MESH:D000382 Agricultural Workers' Diseases Lindane 4.5612661182
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental marker/mechanism 19763162
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms Genistein 2.0016873071 17200150 16541309
MESH:D001943 Breast Neoplasms Lindane 2.0014688026
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0020435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1116050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular Genistein 3.2116924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.2117173139 20007298 20935162 6705139 1701930
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases Genistein 3.4016332659
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3920889678
MESH:D002471 Cell Transformation, Neoplastic tobacco tar 7.3919559774
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.434080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.158697196 12621046 15668235 15340226 16354765
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D003110 Colonic Neoplasms Genistein 2.3017182828
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:C536441 Cornelia de Lange syndrome 1 marker/mechanism
MESH:D019465 Craniofacial Abnormalities marker/mechanism 19763162
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5215322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5219769572
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D003635 De Lange Syndrome marker/mechanism 19763162 19886366
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.4316647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.4317107852
MESH:D056486 Drug-Induced Liver Injury Selenium 3.8915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004421 Dystonia Phenobarbital 4.151851702
MESH:C538011 Eales disease Vitamin E 4.929068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 16714409 15322242
MESH:D004714 Endometrial Hyperplasia Genistein 4.7816402032
MESH:D016889 Endometrial Neoplasms Genistein 3.4511473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.283659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.093922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9520417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.676401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.437750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.213659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1020426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005909 Glioblastoma Genistein 3.3416598420
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006311 Hearing Disorders marker/mechanism 19763162
MESH:D006330 Heart Defects, Congenital marker/mechanism 19763162
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8010048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.8016080930
MESH:D006333 Heart Failure Selenium 3.1517162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Phenobarbital 9.0316109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.0312621046 15340226 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7416490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.1914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616959395 16354765 8697196 18606429 15340226
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518670907 18850075
MESH:D007248 Infertility, Male vinclozolin 3.1316467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212200463 12878042
MESH:D007251 Influenza, Human Selenium 11.7016624496
MESH:D007251 Influenza, Human Vitamin E 11.7016624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007674 Kidney Diseases Vitamin E 2.8812488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007938 Leukemia Genistein 3.0918980019 17468513
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9621047994
MESH:D008106 Liver Cirrhosis, Experimental Genistein 3.5817823541
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5812878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5816169303
MESH:D008107 Liver Diseases Lindane 4.581715830
MESH:D008107 Liver Diseases Phenobarbital 4.5819363144
MESH:D008113 Liver Neoplasms Phenobarbital 4.5819812893 15975961 19073162 19482888 21047994 8742319
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5816984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.0717172636 18308698 6150874 2563599 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0712151625
MESH:D008171 Lung Diseases Vitamin E 3.2716863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3411884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 2.3411062179
MESH:D008325 Mammary Neoplasms, Experimental Genistein 6.4512929590 14578162
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.4515318939
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D009203 Myocardial Infarction Genistein 2.9117141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury Genistein 3.7717141266
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.6717484760
MESH:D009369 Neoplasms Lindane 3.4316818664 12807735
MESH:D009410 Nerve Degeneration Rotenone 3.9915790535 18619942 17356569
MESH:D009421 Nervous System Malformations Genistein 10.1516427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.1514600291
MESH:D010018 Osteomalacia Phenobarbital 4.5617016548
MESH:D010024 Osteoporosis Genistein 3.3319401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.2316169203
MESH:D010051 Ovarian Neoplasms Genistein 2.6319005980
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5316965848
MESH:D010300 Parkinson Disease Rotenone 3.0215451049 16412576 11535288 18619942 11445065 16140633 18191903 19232380 19114014
MESH:D020734 Parkinsonian Disorders Rotenone 4.2115574749 15927086 18197244 15795934
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.752563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1411896295 11118676 11399792 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.1418042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011471 Prostatic Neoplasms Clorgyline 2.1719691856
MESH:D011471 Prostatic Neoplasms Genistein 2.1715256057 16925846 15378649
MESH:D011471 Prostatic Neoplasms Lindane 2.1712661182 14688026
MESH:D011471 Prostatic Neoplasms Vitamin E 2.1715084515
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D019310 Pseudolymphoma Phenobarbital 4.7112752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012640 Seizures Lindane 6.6412842176 7539098 15475178
MESH:D012640 Seizures Phenobarbital 6.643137016 11442880 4039156 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 5.026407741
MESH:D012871 Skin Diseases Vitamin E 2.4718709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D020521 Stroke Vitamin E 3.6316517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.161399818
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
No data
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved