| Disease ID | Disease name | Source of annotation with ARHGEF9 | 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 |
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| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| GABA receptor activation | R-HSA-977443 | 7.2 |
| Cell death signalling via NRAGE, NRIF and NADE | R-HSA-204998 | 7.05 |
| Signalling by NGF | R-HSA-166520 | 4.23 |
| G alpha (12/13) signalling events | R-HSA-416482 | 6.75 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| Ion channel transport | R-HSA-983712 | 5.34 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| 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 |
| Rho GTPase cycle | R-HSA-194840 | 6.04 |
| p75 NTR receptor-mediated signalling | R-HSA-193704 | 6.59 |
| Neuronal System | R-HSA-112316 | 4.82 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell | R-HSA-112314 | 5.85 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| NRAGE signals death through JNK | R-HSA-193648 | 7.49 |
| GO term | GO ID | GO IC |
|---|---|---|
| Rho guanyl-nucleotide exchange factor activity | GO:0005089 | 5.37 |
| Ras guanyl-nucleotide exchange factor activity | GO:0005088 | 4.31 |
| molecular function regulator | GO:0098772 | 2.51 |
| guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |