| Disease ID | Disease name | Source of annotation with FGD4 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS |
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| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| p75 NTR receptor-mediated signalling | R-HSA-193704 | 6.59 |
| 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 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| Rho GTPase cycle | R-HSA-194840 | 6.04 |
| Cell death signalling via NRAGE, NRIF and NADE | R-HSA-204998 | 7.05 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| 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 |
| metal ion binding | GO:0046872 | 1.41 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
| cation binding | GO:0043169 | 1.4 |
| enzyme binding | GO:0019899 | 2.27 |
| ion binding | GO:0043167 | 1.36 |
| actin binding | GO:0003779 | 3.74 |
| small GTPase binding | GO:0031267 | 4.13 |
| GTPase binding | GO:0051020 | 4.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| molecular function regulator | GO:0098772 | 2.51 |