| Disease ID | Disease name | Source of annotation with PLEKHG5 | 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, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| 611067 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PLEKHG5 |
Download the gene annotation in CSV format
| 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 |
| molecular function regulator | GO:0098772 | 2.51 |
| guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
| signal transducer activity | GO:0004871 | 2.28 |