AutismKB 2.0

Annotation Detail for GABRE


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Basic Information Top
Gene Symbol:GABRE ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, epsilon
Band: Xq28
Quick LinksEntrez ID:2564; OMIM: 300093; Uniprot ID:GBRE_HUMAN; ENSEMBL ID: ENSG00000102287; HGNC ID: 4085
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04080Neuroactive ligand-receptor interaction
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005680 gamma-Aminobutyric Acid Etomidate promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 binds to GABRB1 binds to GABRE]]affects binding|increases activity|increases reaction 10049148
D005680 gamma-Aminobutyric Acid Pentobarbital promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 binds to GABRB1 binds to GABRE]]affects binding|increases activity|increases reaction 10049148
D005680 gamma-Aminobutyric Acid Propofol promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 binds to GABRB1 binds to GABRE]]affects binding|increases activity|increases reaction 10049148
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GABRE mRNAaffects expression 16483693
D001569 Benzodiazepines GABRE protein results in decreased susceptibility to Benzodiazepinesdecreases response to substance 11691872
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of GABRE mRNAincreases expression 20106945
D002707 Chlordiazepoxide GABRE protein results in decreased susceptibility to Chlordiazepoxidedecreases response to substance 11691872
D016572 Cyclosporine Cyclosporine results in decreased expression of GABRE mRNAdecreases expression 20106945
D004958 Estradiol Estradiol results in increased expression of GABRE mRNAincreases expression 16000229
D005045 Etomidate Etomidate promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 binds to GABRB1 binds to GABRE]]affects binding|increases activity|increases reaction 10049148
C034818 methyl 6,7-dimethoxy-4-ethyl-beta-carboline-3-carboxylate GABRE protein results in decreased susceptibility to methyl 6,7-dimethoxy-4-ethyl-beta-carboline-3-carboxylatedecreases response to substance 11691872
D008874 Midazolam GABRE protein results in decreased susceptibility to Midazolamdecreases response to substance 11691872
D010424 Pentobarbital Pentobarbital promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 binds to GABRB1 binds to GABRE]]affects binding|increases activity|increases reaction 10049148
D010424 Pentobarbital Pentobarbital results in increased activity of [GABRA1 binds to GABRB1 binds to GABRE]affects binding|increases activity 10049148
D010424 Pentobarbital GABRE protein results in decreased susceptibility to Pentobarbitaldecreases response to substance 9039914
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of GABRE mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of GABRE mRNAdecreases expression 17950772
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of GABRE mRNA]decreases expression|increases reaction 17950772
C025299 polyphenols polyphenols results in decreased expression of GABRE mRNAdecreases expression 16293270
D011280 Pregnanolone GABRE protein results in decreased susceptibility to Pregnanolonedecreases response to substance 9039914
D015742 Propofol Propofol promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 binds to GABRB1 binds to GABRE]]affects binding|increases activity|increases reaction 10049148
D015742 Propofol GABRE protein results in decreased susceptibility to Propofoldecreases response to substance 9039914
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of GABRE mRNAincreases expression 12377990
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8714514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.5818287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.1218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2820127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.2811473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.656695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.9716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.9716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9511748828
MESH:D001008 Anxiety Disorders Pentobarbital 4.7318313124 11141031
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0919183758
MESH:D001321 Autistic Disorder Benzodiazepines 4.6817630868
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.7819483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.7812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7615746008
MESH:D001930 Brain Injuries Pregnanolone 6.2215665606 15380490
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.7917474063 20146248
MESH:D001943 Breast Neoplasms Estradiol 1.7916675129 12948864 18497071 17289903 19861407 17261762 17018787 14630087
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7920435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4816111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8016835633
MESH:D006528 Carcinoma, Hepatocellular Estradiol 1.7616924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0520419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3716120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.5812371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.5818566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D002779 Cholestasis Cyclosporine 7.7619486331
MESH:D002779 Cholestasis pirinixic acid 7.7619176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1016354765 15340226 15668235 8697196 12621046
MESH:D003110 Colonic Neoplasms polyphenols 2.6716293270
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0617141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2515322242 10048152 20055451
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4318249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.4119279558
MESH:D003929 Diabetic Neuropathies Pregnanolone 6.4617187935
MESH:D056486 Drug-Induced Liver Injury polyphenols 3.9819370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7611462148
MESH:D004487 Edema pirinixic acid 6.5512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9318230668 15322242 16714409
MESH:D016889 Endometrial Neoplasms Estradiol 2.9818566989 19148513 11473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0210568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0116530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0111564622
MESH:D005234 Fatty Liver Cyclosporine 7.5819224547
MESH:D005234 Fatty Liver pirinixic acid 7.5819236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4711858732
MESH:D005355 Fibrosis Cyclosporine 8.5312639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.5320067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.248708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6210696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.4520471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.4510048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5420558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3411000095
MESH:D006529 Hepatomegaly pirinixic acid 8.3116221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.3115340226 16120746 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.0615709030
MESH:D019584 Hot Flashes Estradiol 3.7817088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.088697196 18606429 15340226 16959395 16354765
MESH:D006943 Hyperglycemia pirinixic acid 3.1920558911
MESH:D006973 Hypertension Cyclosporine 4.9510903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.9518670907 18850075
MESH:D007249 Inflammation polyphenols 5.1516366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1512878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.2016627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.2016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4715604871
MESH:D007674 Kidney Diseases Cyclosporine 5.9418776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 5.9415618244
MESH:D007680 Kidney Neoplasms Cyclosporine 7.2812371664
MESH:D007680 Kidney Neoplasms Estradiol 7.2815610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.3814659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.3815474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.3812878042
MESH:D008107 Liver Diseases polyphenols 2.7816698588
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.3221137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 7.3216377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.3216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1112151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.1818520028 18816296 20064080 20464547 17053015 18569708 20869020 20135361 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.1811884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.5611807958 11408345 16891317 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.5119453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8216801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.1916381670
MESH:D009135 Muscular Diseases pirinixic acid 3.5216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1419151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0212213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.2616810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.2616411023
MESH:D009369 Neoplasms Benzo(a)pyrene 4.8211141357
MESH:D009369 Neoplasms pirinixic acid 4.8217405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7517289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4717954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2919348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 9.5011399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.5014600291
MESH:D009765 Obesity pirinixic acid 1.8120558911
MESH:D010051 Ovarian Neoplasms Estradiol 2.2219401270
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2812520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5718163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2212371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2111896295 11118676 11222880 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8920887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1117292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.1116740699
MESH:D011565 Psoriasis Cyclosporine 2.2316882103
MESH:D011595 Psychomotor Agitation Benzodiazepines 6.9120581379
MESH:D012021 Reflex, Abnormal Pentobarbital 6.0410930210
MESH:D015427 Reperfusion Injury pirinixic acid 2.3919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8518990726
MESH:D012640 Seizures Midazolam 7.1610087439
MESH:D012640 Seizures Pentobarbital 7.1610087439 9754883
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.4819755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.4816192470
MESH:D012893 Sleep Disorders Midazolam 6.036138072
MESH:D007319 Sleep Initiation and Maintenance Disorders Midazolam 5.836138071
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013375 Substance Withdrawal Syndrome Pentobarbital 4.989754883 11529278
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.2817997062
MESH:D013742 Tetanus Midazolam 14.242903605
MESH:D013742 Tetanus Propofol 14.242903605
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9312697716
MESH:D013978 Tibial Fractures Estradiol 4.7219048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.1817053015
MESH:D014605 Uveitis Cyclosporine 4.011336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.4717120751
Pathway ID Pathway Name
KEGG:04080 Neuroactive ligand-receptor interaction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28499
    • No data
    Releated disease ID Related disease Name
    PA443309Alcoholism
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00186 potentiator Lorazepam Anti-anxiety Agents;Hypnotics and Sedatives;Antiemetics;Anticonvulsants;Benzodiazepines;GABA Modulators
    DB00231 potentiator Temazepam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB00349 partial agonist Clobazam Anticonvulsants;Benzodiazepines
    DB00404 potentiator Alprazolam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;GABA Modulators
    DB00475 potentiator Pro Chlorax Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB00546 potentiator Adinazolam Anti-anxiety Agents;Antidepressive Agents
    DB00628 potentiator Clorazepate Anti-anxiety Agents;Anticonvulsants;GABA Modulators
    DB00683 potentiator Midazolam Anti-anxiety Agents;Hypnotics and Sedatives;Adjuvants, Anesthesia;GABA Modulators;Anesthetics, Intravenous
    DB00690 potentiator Flurazepam Anti-anxiety Agents;Hypnotics and Sedatives;GABA Modulators
    DB00801 potentiator Halazepam Anti-anxiety Agents;Muscle Relaxants;Benzodiazepines;Sedative
    DB00829 potentiator Diazepam Anti-anxiety Agents;Hypnotics and Sedatives;Antiemetics;Anticonvulsants;Adjuvants, Anesthesia;GABA Modulators;Anesthetics, Intravenous;Muscle Relaxants, Central
    DB00842 potentiator Oxazepam Anti-anxiety Agents;Hypnotics and Sedatives;GABA Modulators
    DB00897 potentiator Triazolam Anti-anxiety Agents;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB01068 potentiator Clonazepam Anticonvulsants;Benzodiazepines;GABA Modulators
    DB01215 potentiator Estazolam Anti-anxiety Agents;Anticonvulsants;GABA Modulators
    DB01558 potentiator Bromazepam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;GABA Modulators
    DB01559 potentiator Clotiazepam Anti-anxiety Agents;Hypnotics and Sedatives;Anticonvulsants;Benzodiazepines
    DB01567 potentiator Fludiazepam Anti-anxiety Agents;Benzodiazepines
    DB01587 potentiator Ketazolam Anti-anxiety Agents;Benzodiazepines
    DB01588 potentiator Prazepam Anti-anxiety Agents;Hypnotics and Sedatives;GABA Modulators
    DB01589 potentiator Quazepam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;GABA Modulators
    DB01594 potentiator Cinolazepam Anticonvulsants;Benzodiazepines;Sedatives and Hypnotics
    DB01595 potentiator Nitrazepam Anti-anxiety Agents;Hypnotics and Sedatives;Anticonvulsants;GABA Modulators
    No data
    No data
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    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


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