| Disease ID | Disease name | Source of annotation with STXBP1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 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 |
|---|---|---|
| Synaptic vesicle cycle | hsa04721 | 6.74 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glutamate Neurotransmitter Release Cycle | R-HSA-210500 | 8.4 |
| Norepinephrine Neurotransmitter Release Cycle | R-HSA-181430 | 8.81 |
| GABA synthesis, release, reuptake and degradation | R-HSA-888590 | 8.73 |
| Serotonin Neurotransmitter Release Cycle | R-HSA-181429 | 8.81 |
| Integration of energy metabolism | R-HSA-163685 | 6.24 |
| Dopamine Neurotransmitter Release Cycle | R-HSA-212676 | 8.46 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Acetylcholine Neurotransmitter Release Cycle | R-HSA-264642 | 8.89 |
| Neuronal System | R-HSA-112316 | 4.82 |
| Regulation of insulin secretion | R-HSA-422356 | 6.66 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| Neurotransmitter Release Cycle | R-HSA-112310 | 7.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein binding | GO:0005515 | 0.46 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| enzyme binding | GO:0019899 | 2.27 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| syntaxin binding | GO:0019905 | 5.19 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| RNA binding | GO:0003723 | 2.36 |
| syntaxin-1 binding | GO:0017075 | 6.85 |
| SNARE binding | GO:0000149 | 4.87 |
| identical protein binding | GO:0042802 | 2.63 |
| protein domain specific binding | GO:0019904 | 3.32 |