Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2556
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Gamma-aminobutyric acid type A receptor subunit alpha3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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GABRA3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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EPILX2 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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EPILX2 |
Chromosome
Chromosome number
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X |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xq28 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 GA |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Atrioventricular block |
Second degree atrioventricular block |
rs766840243, rs763809932 |
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Autism |
Autistic Disorder |
rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542 View all (8 more) |
18821008 |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
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Ventricular fibrillation |
Ventricular Fibrillation |
rs137854604, rs587782933, rs190140598 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Mental Depression, Depressive disorder |
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20512339 |
ClinVar |
Thyrotoxic periodic paralysis |
Thyrotoxic periodic paralysis |
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17970773 |
ClinVar |
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