| Disease ID | Disease name | Source of annotation with DOCK7 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM | 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
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Factors involved in megakaryocyte development and platelet production | R-HSA-983231 | 5.88 |
| Hemostasis | R-HSA-109582 | 3.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein binding | GO:0005515 | 0.46 |
| guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
| GTPase binding | GO:0051020 | 4.05 |
| enzyme binding | GO:0019899 | 2.27 |
| Ras GTPase binding | GO:0017016 | 4.2 |
| small GTPase binding | GO:0031267 | 4.13 |
| Rac GTPase binding | GO:0048365 | 6.05 |
| binding | GO:0005488 | 0.18 |
| Rho GTPase binding | GO:0017048 | 5.36 |
| molecular function regulator | GO:0098772 | 2.51 |