AutismKB 2.0

Annotation Detail for NR0B1


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Basic Information Top
Gene Symbol:NR0B1 ( AHC,AHCH,AHX,DAX-1,DAX1,DSS,GTD,HHG,NROB1 )
Gene Full Name: nuclear receptor subfamily 0, group B, member 1
Band: Xp21.2
Quick LinksEntrez ID:190; OMIM: 300473; Uniprot ID:NR0B1_HUMAN; ENSEMBL ID: ENSG00000169297; HGNC ID: 7960
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Gene Expression
Pathway IDPathway Name
200102Regulation of Androgen receptor activity
No data
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
1901Endometriosis
1935Ewings sarcoma
1955Urogenital abnormalities
1969Azoospermia
2031Endometrial cancer
2091Hypertension
2228Adrenal gland hypofunction
No data
No data
Desease Name
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
Dosage-sensitive sex reversal
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C404910 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [FSHB protein affects the expression of NR0B1 mRNA]affects expression|affects reaction 19414516
D000643 Ammonium Chloride Ammonium Chloride affects the expression of NR0B1 mRNAaffects expression 16483693
C015001 arsenite arsenite results in increased methylation of NR0B1 promoterincreases methylation 19716837
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of NR0B1 mRNAincreases expression 20504355
C027561 butylbenzyl phthalate butylbenzyl phthalate results in decreased expression of NR0B1 mRNAdecreases expression 15728792
D003008 Cloprostenol Cloprostenol results in increased expression of NR0B1 mRNAincreases expression 15713365
D003993 Dibutyl Phthalate Dibutyl Phthalate results in decreased expression of NR0B1 mRNAdecreases expression 15728792
D003993 Dibutyl Phthalate Dibutyl Phthalate results in decreased expression of NR0B1 proteindecreases expression 15728792
D004051 Diethylhexyl Phthalate Diethylhexyl Phthalate results in decreased expression of NR0B1 mRNAdecreases expression 15728792
C034171 di-n-pentyl phthalate di-n-pentyl phthalate results in decreased expression of NR0B1 mRNAdecreases expression 15728792
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NR0B1 mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of NR0B1 mRNAdecreases expression 12655037
C016599 mono-(2-ethylhexyl)phthalate mono-(2-ethylhexyl)phthalate results in decreased expression of NR0B1 mRNAdecreases expression 16809437
C016599 mono-(2-ethylhexyl)phthalate mono-(2-ethylhexyl)phthalate results in increased expression of NR0B1 mRNAincreases expression 16809437
C406082 monomethylarsonous acid monomethylarsonous acid results in increased methylation of NR0B1 promoterincreases methylation 19716837
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NR0B1 mRNAaffects cotreatment|increases expression 17942748
D014212 Tretinoin Tretinoin results in decreased expression of NR0B1 mRNAdecreases expression 16604517
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Diethylhexyl Phthalate 8.996734493
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.9911752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0417505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2220127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2214692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.686695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4616835633
MESH:D000312 Adrenal Hyperplasia, Congenital marker/mechanism
MESH:D000505 Alopecia Tretinoin 3.6615955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0011748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1519183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.3115885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.3116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2716292516
MESH:D001249 Asthma Tretinoin 2.3616456186
MESH:D001471 Barrett Esophagus Tretinoin 4.4716935849
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.1212125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.1216197459 16206674
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8015746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8020146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8020435547
MESH:D001943 Breast Neoplasms Tretinoin 1.8016166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.6716813970
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8416835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.2616168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.891917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.6220419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.6216096774 16051514
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3918670907 16120746 18850075
MESH:D002386 Cataract Tretinoin 3.1217460283
MESH:D002471 Cell Transformation, Neoplastic monomethylarsonous acid 3.9619716837
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.6716129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.9116105132 17333356 17110522 16919318 11677210 15861022 17681005
MESH:D002822 Choriocarcinoma Tretinoin 5.2616461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 5.838697196 15340226 12621046 16354765 15668235
MESH:D002972 Cleft Palate Tretinoin 5.839407595
MESH:D003092 Colitis Tretinoin 3.7817035595
MESH:D003110 Colonic Neoplasms arsenite 2.5915037631
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4615322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.469211117 9125849 14991402 17551590 9664655 10589399 9224671 16925845 9142499 8800419
MESH:D003456 Cryptorchidism Dibutyl Phthalate 5.5116037377
MESH:D003876 Dermatitis, Atopic Diethylhexyl Phthalate 4.0716882537
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:C535601 Dosage-sensitive sex reversal marker/mechanism
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5520420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8011462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 12.2718230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 12.2718230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2512538720
MESH:D016889 Endometrial Neoplasms Tretinoin 3.1416569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.079294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0216530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 8.9711564622
MESH:D005124 Eye Abnormalities Tretinoin 8.9716938888 9664655
MESH:D005234 Fatty Liver arsenite 8.1018296743
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.1015345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5311858732
MESH:D005355 Fibrosis arsenite 15.2818296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.2820067830
MESH:D005355 Fibrosis Tretinoin 15.2817994277
MESH:D005909 Glioblastoma Tretinoin 3.0417312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6910696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2216096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.2616084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.2520471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.2511294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 11.2514991402 9664655
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3911000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9612621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.148697196 16959395 15340226 16354765 18606429
MESH:D006930 Hyperalgesia Tretinoin 3.2516870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.6416778211
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9218670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8816945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5217937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8812878042 12200463
MESH:D007410 Intestinal Diseases Tretinoin 3.8417994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.1216580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.1217551590 15992940
MESH:D007938 Leukemia Tretinoin 2.7917143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.7516482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.0816294345 19850784 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.1917361223 17712046 16331271 16823087 16766008 16891316 19225113 9834237 12679006 16788101 17301526 19035177 17217047 19642359 17368321 17107899 16935935 17294898 16140955 17649720 15748426 17339181 19075265 19029980 17506722
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.349224671
MESH:D008103 Liver Cirrhosis arsenite 3.4518296743
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3212878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.3218397230 16248980
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.6420195826 21137059
MESH:D008113 Liver Neoplasms Diethylhexyl Phthalate 7.6411940454
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1412151625
MESH:D008175 Lung Neoplasms arsenite 3.4616809336
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4620135361 18569708 18816296 20464547 20064080 6695378 17053015 18520028 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4619555203 11884234
MESH:D008527 Medulloblastoma Tretinoin 2.8017453147
MESH:D008545 Melanoma Tretinoin 1.9516752155
MESH:D008591 Meningomyelocele Tretinoin 4.5016940565
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2316381670
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.1117596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0612213967
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0711141357
MESH:D009369 Neoplasms Tretinoin 5.0716946489 16594593
MESH:D009389 Neovascularization, Pathologic arsenite 4.4915738583
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.7314600291
MESH:D009421 Nervous System Malformations Tretinoin 9.739125849
MESH:D009436 Neural Tube Defects Tretinoin 3.099142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.3616936753
MESH:D010146 Pain Tretinoin 2.9516870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.4815976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3512520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2711118676 11896295 11399792 11222880
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9617292933
MESH:D011507 Proteinuria Tretinoin 3.6616636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.3916919318 15861022
MESH:D011625 Pterygium Tretinoin 4.8816723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9018990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.1616283617 16116481
MESH:D012871 Skin Diseases monomethylarsonous acid 3.3917431481
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.5319755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.5316192470
MESH:D012878 Skin Neoplasms Tretinoin 9.5316467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0416709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.362093021 20155912
MESH:D013274 Stomach Neoplasms Tretinoin 2.3617261132
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0012697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.0617045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 3.8416051514
MESH:D014376 Tuberculosis Tretinoin 3.2616040207
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.4617053015
MESH:D001749 Urinary Bladder Neoplasms monomethylarsonous acid 5.4620375083
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.7316129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3614692618
MESH:D014604 Uveal Neoplasms Tretinoin 4.7116752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6912125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5914671159 15869587
MESH:D014820 Vitiligo Tretinoin 4.1216761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3515886252
MESH:D009396 Wilms Tumor Tretinoin 4.0216287080
Pathway ID Pathway Name
REACT:71 Gene Expression
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00755 - Tretinoin Antineoplastic Agents;Keratolytic Agents;Cell Stimulants and Proliferants
DB01234 stimulator Tresaderm Dermatologic Solution Anti-inflammatory Agents;Adrenergic Agents;Antiemetics;Antineoplastic Agents, Hormonal;Glucocorticoids
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  (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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