AutismKB 2.0

Annotation Detail for GABRD


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Basic Information Top
Gene Symbol:GABRD ( EIG10,EJM7,GEFSP5,MGC45284 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, delta
Band: 1p36.33
Quick LinksEntrez ID:2563; OMIM: 137163; Uniprot ID:GBRD_HUMAN; ENSEMBL ID: ENSG00000187730; HGNC ID: 4084
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
hsa04080Neuroactive ligand-receptor interaction
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Related Diseases/Disorders Top
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Desease Name
Epilepsy, juvenile myoclonic, susceptibility to
Generalized epilepsy with febrile seizures plus, type 5, susceptibility to
Epilepsy, idiopathic generalized, 10
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GABRD mRNAaffects expression 16483693
D003975 Diazepam Diazepam results in increased expression of GABRD mRNAincreases expression 15802192
D004006 Dichlorvos Dichlorvos results in decreased expression of GABRD mRNAdecreases expression 19146868
D018120 Finasteride Finasteride inhibits the reaction [Progesterone affects the expression of GABRD mRNA]affects expression|decreases reaction 16914187
16879715
D018120 Finasteride Finasteride inhibits the reaction [Progesterone affects the expression of GABRD protein]affects expression|decreases reaction 16914187
16879715
D009020 Morphine Morphine results in increased expression of GABRD mRNAincreases expression 15183518
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of GABRD mRNAincreases expression 17616710
D010269 Paraquat Paraquat results in decreased expression of GABRD mRNAdecreases expression 19146868
D010278 Parathion Parathion results in decreased expression of GABRD mRNAdecreases expression 19146868
D010424 Pentobarbital GABRD protein affects the susceptibility to Pentobarbitalaffects response to substance 15201633
D010424 Pentobarbital Pentobarbital results in increased expression of GABRD mRNAincreases expression 8848253
C033457 phenobarbital quinidine phenobarbital quinidine results in increased expression of GABRD mRNAincreases expression 15802192
C025299 polyphenols polyphenols results in decreased expression of GABRD mRNAdecreases expression 16293270
D011280 Pregnanolone Pregnanolone results in decreased expression of GABRD proteindecreases expression 16914187
D011374 Progesterone Finasteride inhibits the reaction [Progesterone affects the expression of GABRD mRNA]affects expression|decreases reaction 16879715
16914187
D011374 Progesterone Finasteride inhibits the reaction [Progesterone affects the expression of GABRD protein]affects expression|decreases reaction 16879715
16914187
D011374 Progesterone Progesterone affects the expression of GABRD mRNAaffects expression 16914187
16879715
D011374 Progesterone Progesterone affects the expression of GABRD proteinaffects expression 16879715
15834956
D011374 Progesterone Progesterone metabolite affects the expression of GABRD mRNAaffects expression 16879715
D011374 Progesterone Progesterone results in decreased expression of GABRD proteindecreases expression 16914187
C009413 tetrahydrodeoxycorticosterone tetrahydrodeoxycorticosterone results in decreased expression of GABRD proteindecreases expression 16914187
D014050 Toluene Toluene affects the expression of GABRD mRNAaffects expression 17108153
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.6118287403
MESH:D000382 Agricultural Workers' Diseases Dichlorvos 15.0417119214 16611668 12661182
MESH:D000382 Agricultural Workers' Diseases Paraquat 15.0411874814
MESH:D000382 Agricultural Workers' Diseases Parathion 15.0417119214 11874814
MESH:D001008 Anxiety Disorders Diazepam 9.9218313124 16284244
MESH:D001008 Anxiety Disorders Pentobarbital 9.9211141031 18313124
MESH:D001480 Basal Ganglia Diseases Dichlorvos 6.0315303389
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.4017868700
MESH:D001930 Brain Injuries Pregnanolone 11.7515380490 15665606
MESH:D001930 Brain Injuries Progesterone 11.7515665606 15845082 15380490
MESH:D002545 Brain Ischemia Morphine 5.1919211983
MESH:D001943 Breast Neoplasms Parathion 2.8412762645
MESH:D001943 Breast Neoplasms Progesterone 2.8416175315 15562024 17614352
MESH:D002418 Cattle Diseases Dichlorvos 5.7114651886
MESH:D002493 Central Nervous System Diseases Dichlorvos 5.8012670839
MESH:D002547 Cerebral Palsy Toluene 5.909294310
MESH:D002972 Cleft Palate Diazepam 4.373629520
MESH:D003110 Colonic Neoplasms polyphenols 2.6816293270
MESH:D003128 Coma Dichlorvos 6.0615303389
MESH:D019465 Craniofacial Abnormalities Toluene 2.889294310
MESH:D003643 Death Toluene 5.736431079
MESH:D003929 Diabetic Neuropathies Pregnanolone 12.5917187935
MESH:D003929 Diabetic Neuropathies Progesterone 12.5917187935
MESH:D003967 Diarrhea Morphine 4.562540324
MESH:D056486 Drug-Induced Liver Injury polyphenols 2.7519370779
MESH:D004421 Dystonia Diazepam 5.701851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.8217692515
MESH:D004715 Endometriosis Progesterone 3.7916134523
MESH:D004828 Epilepsies, Partial Diazepam 5.603922381
MESH:D004827 Epilepsy Diazepam 4.57821787
MESH:D004832 Epilepsy, Absence Diazepam 5.236401628 6426943
MESH:D004829 Epilepsy, Generalized marker/mechanism
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.7815264214 15150132 15878914 15623463 16510608 15547721 16805852 16704527 15547733
OMIM:604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 marker/mechanism
MESH:D005911 Gliosis Paraquat 5.2311124998
MESH:D006734 Horse Diseases Dichlorvos 6.0616402567
MESH:D006941 Hyperesthesia Dichlorvos 6.7512563396
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.4415869954
MESH:D007248 Infertility, Male Paraquat 7.544850670
MESH:D007248 Infertility, Male Parathion 7.5416029889
MESH:D007249 Inflammation polyphenols 5.4716366677
MESH:D007249 Inflammation Progesterone 5.4715869954
MESH:D007674 Kidney Diseases Dichlorvos 4.2616798900
MESH:D008107 Liver Diseases polyphenols 2.7916698588
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 2.8817203775 11408345
MESH:D008607 Mental Retardation Toluene 3.669294310
MESH:D016472 Motor Neuron Disease Dichlorvos 6.3711282359
MESH:D019957 Motor Skills Disorders Toluene 5.279294310
MESH:D009349 Nematode Infections Dichlorvos 6.2016402567
MESH:D009410 Nerve Degeneration Dichlorvos 9.0917850875 11282359
MESH:D009410 Nerve Degeneration Paraquat 9.0916893418
MESH:D019636 Neurodegenerative Diseases Dichlorvos 4.9416635102
MESH:D020258 Neurotoxicity Syndromes Dichlorvos 4.7812186780
MESH:D010051 Ovarian Neoplasms Progesterone 2.5317393432 16525653
MESH:D010146 Pain Morphine 4.2120225289 16273134 6776300 15275824 18699797 15215642
MESH:D010195 Pancreatitis Dichlorvos 4.9216258382
MESH:D010300 Parkinson Disease Paraquat 2.8215824117 15451049 16140633 16510128 11124998 11445065 11181820 12911755
MESH:D010302 Parkinson Disease, Secondary Dichlorvos 11.5912645970
MESH:D010302 Parkinson Disease, Secondary Paraquat 11.5916190885
MESH:D011014 Pneumonia Paraquat 4.5012504350
MESH:D011041 Poisoning Dichlorvos 4.9915303389 12460839 17157343 18072136 17603234 16036766
MESH:D011115 Polyneuropathies Dichlorvos 5.6812563396
MESH:D011471 Prostatic Neoplasms Dichlorvos 4.7412661182
MESH:D011471 Prostatic Neoplasms Finasteride 4.7412597149
MESH:D011658 Pulmonary Fibrosis Paraquat 2.9216324872 17997886
MESH:D012021 Reflex, Abnormal Pentobarbital 6.0710930210
MESH:D015427 Reperfusion Injury Morphine 4.1419211983
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 3.9411700416
MESH:D012131 Respiratory Insufficiency Dichlorvos 5.6617350689 15303389
MESH:D012135 Respiratory Sounds Dichlorvos 16.7117119214 16611668
MESH:D012135 Respiratory Sounds Paraquat 16.7111874814
MESH:D012135 Respiratory Sounds Parathion 16.7117119214 11874814
MESH:D012140 Respiratory Tract Diseases Dichlorvos 11.7116611668 17119214
MESH:D012140 Respiratory Tract Diseases Parathion 11.7117119214
MESH:D012162 Retinal Degeneration Paraquat 3.8916458197
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8618045962
MESH:D012559 Schizophrenia marker/mechanism 18923069
MESH:D012640 Seizures Diazepam 14.5210087439 9754883 15946322
MESH:D012640 Seizures Dichlorvos 14.5212660363 17157343
MESH:D012640 Seizures Pentobarbital 14.529754883 10087439
MESH:D012640 Seizures Toluene 14.529294310 6431079
MESH:D013119 Spinal Cord Injuries Progesterone 4.3316503802 15862959
MESH:D013274 Stomach Neoplasms Dichlorvos 3.2011397402
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 3.2017575124 12958204
MESH:D013322 Strongyloidiasis Dichlorvos 6.2014651886
MESH:D013375 Substance Withdrawal Syndrome Diazepam 10.789754883
MESH:D013375 Substance Withdrawal Syndrome Pentobarbital 10.789754883 11529278
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.3117997062
MESH:D013733 Testicular Diseases Toluene 5.0110514026 10048760
Pathway ID Pathway Name
KEGG:04080 Neuroactive ligand-receptor interaction
Pharmacogenomics Knowledge Base Top
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 potentiator 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
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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