Disease ID | Disease name | Source of annotation with GABRA1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
611136 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GABRA1 |
PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 37 | KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Morphine addiction | hsa05032 | 6.15 |
Nicotine addiction | hsa05033 | 7.38 |
Retrograde endocannabinoid signaling | hsa04723 | 6.03 |
Neuroactive ligand-receptor interaction | hsa04080 | 4.58 |
GABAergic synapse | hsa04727 | 6.24 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
GABA receptor activation | R-HSA-977443 | 7.2 |
Ion channel transport | R-HSA-983712 | 5.34 |
Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
Ligand-gated ion channel transport | R-HSA-975298 | 8.28 |
GABA A receptor activation | R-HSA-977441 | 9.28 |
Neuronal System | R-HSA-112316 | 4.82 |
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell | R-HSA-112314 | 5.85 |
Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
GO term | GO ID | GO IC |
---|---|---|
signaling receptor activity | GO:0038023 | 2.49 |
drug binding | GO:0008144 | 5.03 |
GABA receptor activity | GO:0016917 | 6.65 |
molecular transducer activity | GO:0060089 | 2.32 |
binding | GO:0005488 | 0.18 |
signal transducer activity | GO:0004871 | 2.28 |
extracellular ligand-gated ion channel activity | GO:0005230 | 5.42 |
anion transmembrane transporter activity | GO:0008509 | 4.43 |
ligand-gated ion channel activity | GO:0015276 | 4.8 |
transmembrane transporter activity | GO:0022857 | 2.82 |
inorganic anion transmembrane transporter activity | GO:0015103 | 4.87 |
GABA-A receptor activity | GO:0004890 | 6.79 |
anion channel activity | GO:0005253 | 5.23 |
chloride channel activity | GO:0005254 | 5.36 |
chloride transmembrane transporter activity | GO:0015108 | 5.24 |
transporter activity | GO:0005215 | 2.57 |
ion channel activity | GO:0005216 | 3.71 |
passive transmembrane transporter activity | GO:0022803 | 3.6 |
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
channel activity | GO:0015267 | 3.6 |
gated channel activity | GO:0022836 | 3.96 |
ligand-gated channel activity | GO:0022834 | 4.8 |
substrate-specific channel activity | GO:0022838 | 3.67 |
transmembrane receptor activity | GO:0099600 | 2.53 |
receptor activity | GO:0004872 | 2.32 |