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Aliases for GABRD Gene

Aliases for GABRD Gene

  • Gamma-Aminobutyric Acid Type A Receptor Delta Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Delta 2 3
  • GABA(A) Receptor Subunit Delta 3 4
  • GABA(A) Receptor, Delta 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Delta 3
  • GABA-A Receptor, Delta Polypeptide 3
  • GEFSP5 3
  • EIG10 3
  • EJM7 3

External Ids for GABRD Gene

Previous GeneCards Identifiers for GABRD Gene

  • GC01P001512
  • GC01P001913
  • GC01P9L0120
  • GC00M9Y0062
  • GC01P001234
  • GC01P001950

Summaries for GABRD Gene

Entrez Gene Summary for GABRD Gene

  • Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRD Gene

GABRD (Gamma-Aminobutyric Acid Type A Receptor Delta Subunit) is a Protein Coding gene. Diseases associated with GABRD include Epilepsy, Idiopathic Generalized 10 and Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Akt Signaling and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB1.

UniProtKB/Swiss-Prot for GABRD Gene

  • GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Tocris Summary for GABRD Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRD Gene

Additional gene information for GABRD Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRD Gene

Genomics for GABRD Gene

GeneHancer (GH) Regulatory Elements for GABRD Gene

Promoters and enhancers for GABRD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J002019 Promoter 0.6 EPDnew 650.7 +0.0 43 0.1 VEZF1 GABRD GC01P002026
GH01J002020 Enhancer 0.2 FANTOM5 658.4 +1.5 1468 0.3 GABRD TMEM240 PRKCZ GC01P002026
GH01J001913 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.5 -101.7 -101724 7.7 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF143 SP3 SP5 TMEM52 LOC105378949 CALML6 CFAP74 LOC105378589 GABRD
GH01J001906 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -111.1 -111111 4.3 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 LOC105378949 INTS11 ENSG00000240731 CALML6 CCNL2 CDK11A LOC100288379 C1orf159 TMEM52 NOC2L
GH01J002069 Promoter/Enhancer 1.2 EPDnew ENCODE 11.8 +52.5 52499 4.3 MXI1 ATF1 BCL11B RARA ZNF205 TEAD3 ZFHX2 POLR2A RCOR1 ATF7 PRKCZ GC01M002070 GABRD LOC105378589 CFAP74 SCNN1D GC01P002058
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GABRD gene promoter:
  • NRSF form 2
  • NRSF form 1
  • AREB6
  • Egr-3
  • NF-AT4
  • NF-1
  • NF-1/L
  • NF-AT1

Genomic Locations for GABRD Gene

Genomic Locations for GABRD Gene
11,461 bases
Plus strand
11,425 bases
Plus strand

Genomic View for GABRD Gene

Genes around GABRD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRD Gene

Proteins for GABRD Gene

  • Protein details for GABRD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gamma-aminobutyric acid receptor subunit delta
    Protein Accession:
    Secondary Accessions:
    • Q8N4N9

    Protein attributes for GABRD Gene

    452 amino acids
    Molecular mass:
    50708 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

neXtProt entry for GABRD Gene

Post-translational modifications for GABRD Gene

  • Glycosylation at isoforms=106 and Asn103
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GABRD (GABA-A R delta)

No data available for DME Specific Peptides for GABRD Gene

Domains & Families for GABRD Gene

Gene Families for GABRD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GABRD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily.
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily.
genes like me logo Genes that share domains with GABRD: view

Function for GABRD Gene

Molecular function for GABRD Gene

UniProtKB/Swiss-Prot Function:
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,delta,subunit,component of a pentameric receptor mediating inhibitory neurotransmission

Gene Ontology (GO) - Molecular Function for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 contributes_to GABA-A receptor activity IBA,IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with GABRD: view
genes like me logo Genes that share phenotypes with GABRD: view

Human Phenotype Ontology for GABRD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRD Gene

MGI Knock Outs for GABRD:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRD

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for GABRD Gene

Localization for GABRD Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRD Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRD gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 2176788
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRD: view

Pathways & Interactions for GABRD Gene

genes like me logo Genes that share pathways with GABRD: view

Pathways by source for GABRD Gene

Gene Ontology (GO) - Biological Process for GABRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IEA,TAS 2176788
GO:0007268 chemical synaptic transmission IEA --
GO:0034220 ion transmembrane transport IEA,IBA --
genes like me logo Genes that share ontologies with GABRD: view

No data available for SIGNOR curated interactions for GABRD Gene

Drugs & Compounds for GABRD Gene

(70) Drugs for GABRD Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit, Investigational Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit, Investigational Pharma agonist, Target, positive allosteric modulator 5
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 22

(4) Additional Compounds for GABRD Gene - From: HMDB, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Antagonist, Full agonist, Agonist
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor

(4) Tocris Compounds for GABRD Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5
genes like me logo Genes that share compounds with GABRD: view

Transcripts for GABRD Gene

mRNA/cDNA for GABRD Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GABRD Gene

Gamma-aminobutyric acid (GABA) A receptor, delta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRD

Alternative Splicing Database (ASD) splice patterns (SP) for GABRD Gene

No ASD Table

Relevant External Links for GABRD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GABRD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GABRD Gene

mRNA differential expression in normal tissues according to GTEx for GABRD Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x13.5), Brain - Cerebellum (x13.5), Brain - Cortex (x5.0), and Brain - Frontal Cortex (BA9) (x4.6).

Protein differential expression in normal tissues from HIPED for GABRD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (48.8) and Frontal cortex (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GABRD Gene

Protein tissue co-expression partners for GABRD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRD Gene:


SOURCE GeneReport for Unigene cluster for GABRD Gene:


Evidence on tissue expression from TISSUES for GABRD Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • thyroid
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GABRD: view

No data available for mRNA Expression by UniProt/SwissProt for GABRD Gene

Orthologs for GABRD Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GABRD 34 33
  • 98.91 (n)
(Bos Taurus)
Mammalia GABRD 34 33
  • 89.16 (n)
(Monodelphis domestica)
Mammalia GABRD 34
  • 89 (a)
(Rattus norvegicus)
Mammalia Gabrd 33
  • 87.07 (n)
(Canis familiaris)
Mammalia GABRD 34 33
  • 86.91 (n)
(Mus musculus)
Mammalia Gabrd 16 34 33
  • 86.07 (n)
(Gallus gallus)
Aves GABRD 34 33
  • 75.54 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 41 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrd 33
  • 67 (n)
(Danio rerio)
Actinopterygii gabrd 34 33
  • 74.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7589 35
  • 31 (a)
CG6927 35
  • 30 (a)
CG11340 35
  • 26 (a)
(Caenorhabditis elegans)
Secernentea W10G11.16 35
  • 36 (a)
C39B10.2 35
  • 35 (a)
F11H8.2 35
  • 34 (a)
Y73F8A.2 35
  • 27 (a)
Species where no ortholog for GABRD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GABRD Gene

Gene Tree for GABRD (if available)
Gene Tree for GABRD (if available)
Evolutionary constrained regions (ECRs) for GABRD: view image

Paralogs for GABRD Gene

(24) SIMAP similar genes for GABRD Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GABRD: view

Variants for GABRD Gene

Sequence variations from dbSNP and Humsavar for GABRD Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057519556 uncertain-significance, Epileptic encephalopathy, Idiopathic generalized epilepsy 2,030,031(+) G/A coding_sequence_variant, missense_variant
rs116604393 benign, Idiopathic generalized epilepsy 2,030,125(+) C/T coding_sequence_variant, missense_variant
rs121434580 risk-factor, Generalized epilepsy with febrile seizures plus type 5, Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060] 2,027,636(+) A/C coding_sequence_variant, missense_variant
rs139300921 Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060] 2,028,259(+) C/T coding_sequence_variant, missense_variant
rs146381127 uncertain-significance, Idiopathic generalized epilepsy 2,029,672(+) C/A/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for GABRD Gene

Variant ID Type Subtype PubMed ID
esv2758913 CNV gain+loss 17122850
esv3577697 CNV loss 25503493
nsv482937 CNV loss 15286789
nsv834446 CNV loss 17160897
nsv951425 CNV deletion 24416366

Variation tolerance for GABRD Gene

Residual Variation Intolerance Score: 20.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRD Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRD Gene

Disorders for GABRD Gene

MalaCards: The human disease database

(10) MalaCards diseases for GABRD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, idiopathic generalized 10
  • ejm
generalized epilepsy with febrile seizures plus
  • gefs+
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
febrile seizures
  • seizures febrile
  • epilepsy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GABRD in MalaCards View complete list of genes associated with diseases


  • Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269 PubMed:15115768}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epilepsy, idiopathic generalized 10 (EIG10) [MIM:613060]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Juvenile myoclonic epilepsy 7 (EJM7) [MIM:613060]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for GABRD

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GABRD: view

No data available for Genatlas for GABRD Gene

Publications for GABRD Gene

  1. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 44 58
  2. Genetical genomic determinants of alcohol consumption in rats and humans. (PMID: 19874574) Tabakoff B … WHO/ISBRA Study on State and Trait Markers of Alcoholism (BMC biology 2009) 3 44 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. (PMID: 16023832) Lenzen KP … Sander T (Epilepsy research 2005) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for GABRD Gene

Sources for GABRD Gene

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