AutismKB 2.0

Annotation Detail for GABRA5


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Basic Information Top
Gene Symbol:GABRA5 ( MGC138184 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 5
Band: 15q12
Quick LinksEntrez ID:2558; OMIM: 137142; Uniprot ID:GBRA5_HUMAN; ENSEMBL ID: ENSG00000186297; HGNC ID: 4079
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04080Neuroactive ligand-receptor interaction
No data
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Related Diseases/Disorders Top
No data
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Desease Name
bipolar disorder
PSYCH
schizophrenia
major depression
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005680 gamma-Aminobutyric Acid GABRA5 protein affects the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRB2 protein binds to GABRG2 protein]]affects binding|affects reaction|increases activity 10987858
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of GABRA5 mRNAaffects expression 12734012
D003975 Diazepam Diazepam results in increased activity of GABRA5 proteinincreases activity 15613639
D004958 Estradiol Estradiol affects the expression of GABRA5 mRNAaffects expression 16000229
C044610 etizolam etizolam results in decreased expression of GABRA5 mRNAdecreases expression 16107249
C082661 imidazenil imidazenil affects the activity of GABRA5 proteinaffects activity 15864560
C006253 pirinixic acid pirinixic acid results in increased expression of GABRA5 mRNAincreases expression 12832660
D011374 Progesterone Progesterone results in decreased expression of GABRA5 mRNAdecreases expression 16000229
C113975 RY 008 RY 008 results in increased activity of GABRA5 proteinincreases activity 16162846
D043343 Testosterone Propionate Testosterone Propionate results in increased expression of GABRA5 mRNAincreases expression 16957604
D014050 Toluene Toluene affects the expression of GABRA5 mRNAaffects expression 17108153
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Estradiol 2.1311473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.6716434500
MESH:D001008 Anxiety Disorders Diazepam 5.3016284244 18313124
MESH:D001321 Autistic Disorder marker/mechanism 17353214
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2919483382
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.5617868700
MESH:D001930 Brain Injuries Progesterone 4.4315380490 15665606 15845082
MESH:D001943 Breast Neoplasms Estradiol 2.2012948864 16675129 18497071 17261762 17018787 14630087 19861407 17289903
MESH:D001943 Breast Neoplasms Progesterone 2.2016175315 15562024 17614352
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9515700767 3786805 15721981 16192424 16227642 18705752 15673190 16011737 16097048 16050911 16124888 10355542
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.0418788625
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.0416924424
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.8618566989
MESH:D002547 Cerebral Palsy Toluene 6.049294310
MESH:D002779 Cholestasis pirinixic acid 2.9319176532
MESH:D002972 Cleft Palate Diazepam 4.413629520
MESH:D019465 Craniofacial Abnormalities Toluene 2.889294310
MESH:D003643 Death Toluene 5.886431079
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003928 Diabetic Nephropathies Estradiol 3.5419279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.6717187935
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 2.077440962 7179309 16227642 10092053 10915739 3732212 21278145 6884620 2869522 15027814 16177239 15998439 19085960 19336974 4309450 3786805 9327722 11566570 15968718 7120509 17522070 6623471
MESH:D004421 Dystonia Diazepam 5.821851702
MESH:D004487 Edema pirinixic acid 2.6212083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.9417692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.0711473722 19148513 18566989
MESH:D004715 Endometriosis Progesterone 3.9016134523
MESH:D004828 Epilepsies, Partial Diazepam 5.753922381
MESH:D004827 Epilepsy Diazepam 4.62821787
MESH:D004832 Epilepsy, Absence Diazepam 5.336401628 6426943
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.1412795759 19224547 15959796 12631006 17595544 61145 16045604 16239168
MESH:D005234 Fatty Liver pirinixic acid 8.1420131406 19236843
MESH:D005355 Fibrosis Carbon Tetrachloride 3.6318705752
MESH:D006333 Heart Failure pirinixic acid 2.6220558911
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7619900420 19110552
MESH:D006529 Hepatomegaly pirinixic acid 3.1718467677 16221962 19176532 19772884
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
MESH:D019584 Hot Flashes Estradiol 3.9717088409
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7316899240
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2615338365
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.5815869954
MESH:D007249 Inflammation Progesterone 2.6615869954
MESH:D007333 Insulin Resistance Estradiol 7.4916393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.4916306350
MESH:D007674 Kidney Diseases Estradiol 2.6615618244
MESH:D007680 Kidney Neoplasms Estradiol 3.0915610895
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8811408273 17157831 16943688 17334410 16239168 11903743 16221502 21278145 17174718
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.5212632512 11481614 18187930 14512876 13678700 18054572 17766677 15818738 17708605 17922224 12958196 18006644 17631135 17714472 16192424 18472332 18481824 18395914 12586293 12632514 17944888 17869086 17525996 18472094 18166357 18210741 15893842 14724832 18705752 12445418 12445421 15370692 15362042 16015684 17640975 18277467 16011737 17805973 17565644 15730626 18317297 14748882 17976157 12898905 18395095 14620537 12609069 15673190 16116963 16248980 12741479 18251166 15876570 12649538 18420326 12389079 15057751 16136751 15123356 12546737 16027843 12666154 15959796 15931870 15650968 17481882 14716833 18412020 18263696 16638106 18156304 17823541 17721639 17761835 18429990 20821823 10355542 17557913 18279442 18376398 15996030 15925388 18205269 17698563 15052691 15338365 17900296 14716496 18339082 16097048 18418968 16033810 12667390
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5214659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5215474484
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1116964402 16246199 15830285 17285989 15720792
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3415123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8216899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.5919294768
MESH:D008113 Liver Neoplasms pirinixic acid 4.5920007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.6915583823 12014681
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.3516891317 11807958 11408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.3517203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.7019453300
MESH:D008607 Mental Retardation Toluene 3.699294310
MESH:D019957 Motor Skills Disorders Toluene 5.389294310
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.6116810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.6116411023
MESH:D009369 Neoplasms pirinixic acid 2.0117405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009421 Nervous System Malformations Estradiol 3.8116427766 11399458
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D010051 Ovarian Neoplasms Estradiol 5.0019401270
MESH:D010051 Ovarian Neoplasms Progesterone 5.0016525653 17393432
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0220887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0616740699
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9018045962
MESH:D012640 Seizures Diazepam 11.129754883 10087439 15946322
MESH:D012640 Seizures etizolam 11.1216107249
MESH:D012640 Seizures Toluene 11.129294310 6431079
MESH:D013119 Spinal Cord Injuries Progesterone 4.4715862959 16503802
MESH:D013375 Substance Withdrawal Syndrome Diazepam 5.579754883
MESH:D013733 Testicular Diseases Toluene 5.1510514026 10048760
MESH:D013978 Tibial Fractures Estradiol 4.9019048282
Pathway ID Pathway Name
KEGG:04080 Neuroactive ligand-receptor interaction
REACT:13685 Synaptic Transmission
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28493
    • No data
    No data
    Releated drug ID Related drug Name
    PA164743471adenosine triphosphate
    PA449659flumazenil
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00186 potentiator Lorazepam Anti-anxiety Agents;Hypnotics and Sedatives;Antiemetics;Anticonvulsants;Benzodiazepines;GABA Modulators
    DB00189 agonist Ethchlorvynol Hypnotics and Sedatives
    DB00231 potentiator Temazepam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB00237 potentiator Butabarbital Anti-anxiety Agents;Hypnotics and Sedatives;Barbiturates
    DB00241 potentiator Trianal-C 1/2 Capsule Analgesics
    DB00306 potentiator Talbutal Analgesics
    DB00312 potentiator Cafergot PB Tab Hypnotics and Sedatives;Adjuvants, Anesthesia;GABA Modulators;Barbiturates
    DB00349 potentiator Clobazam Anticonvulsants;Benzodiazepines
    DB00371 agonist Equagesic Tablets Anti-anxiety Agents;Hypnotics and Sedatives;Anticonvulsants;Muscle Relaxants, Central
    DB00402 agonist Eszopiclone Hypnotics and Sedatives
    DB00404 potentiator Alprazolam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;GABA Modulators
    DB00418 potentiator Secobarbital Hypnotics and Sedatives;Adjuvants, Anesthesia;GABA Modulators;Barbiturates;Adjuvants
    DB00463 potentiator Metharbital Anticonvulsants
    DB00475 potentiator Pro Chlorax Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB00546 potentiator Adinazolam Anti-anxiety Agents;Antidepressive Agents
    DB00599 potentiator Thiotal 5g Hypnotics and Sedatives;Anticonvulsants;GABA Modulators;Anesthetics, Intravenous
    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
    DB00794 potentiator Primidone Anticonvulsants;Barbiturates
    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
    DB00849 potentiator Methylphenobarbital Hypnotics and Sedatives;Anticonvulsants;GABA Modulators
    DB00897 potentiator Triazolam Anti-anxiety Agents;Benzodiazepines;Adjuvants, Anesthesia;GABA Modulators
    DB01068 potentiator Clonazepam Anticonvulsants;Benzodiazepines;GABA Modulators
    DB01174 potentiator Phenobarbital Hypnotics and Sedatives;Anticonvulsants;GABA Modulators;Excitatory Amino Acid Antagonists
    DB01198 agonist Zopiclone Hypnotics and Sedatives
    DB01205 - Flumazenil GABA Modulators;Antidotes
    DB01215 potentiator Estazolam Anti-anxiety Agents;Anticonvulsants;GABA Modulators
    DB01351 potentiator Amobarbital Hypnotics and Sedatives;GABA Modulators
    DB01352 potentiator Aprobarbital
    DB01353 potentiator Butethal Anti-anxiety Agents;Hypnotics and Sedatives;Barbiturates
    DB01354 potentiator Heptabarbital Hypnotics and Sedatives;Barbiturates
    DB01355 potentiator Hexobarbital Hypnotics and Sedatives;GABA Modulators;Barbiturates;Adjuvants
    DB01483 potentiator Barbital Hypnotics and Sedatives;GABA Modulators
    DB01496 potentiator Barbituric acid derivative
    DB01544 agonist Flunitrazepam Anti-anxiety Agents;Hypnotics and Sedatives;Benzodiazepines;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
    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
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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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