| Disease ID | Disease name | Source of annotation with RAB7A | 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 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Salmonella infection | hsa05132 | 6.29 |
| Amoebiasis | hsa05146 | 5.82 |
| Phagosome | hsa04145 | 5.27 |
| Endocytosis | hsa04144 | 4.92 |
| Tuberculosis | hsa05152 | 5.17 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Immune System | R-HSA-168256 | 2.37 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| MHC class II antigen presentation | R-HSA-2132295 | 6.01 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| enzyme binding | GO:0019899 | 2.27 |
| small GTPase binding | GO:0031267 | 4.13 |
| GTPase binding | GO:0051020 | 4.05 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| nucleoside binding | GO:0001882 | 2.21 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| nucleotide binding | GO:0000166 | 1.96 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| GTP binding | GO:0005525 | 3.78 |
| hydrolase activity | GO:0016787 | 1.9 |
| GTPase activity | GO:0003924 | 4.31 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| Ras GTPase binding | GO:0017016 | 4.2 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| Rho GTPase binding | GO:0017048 | 5.36 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| Rac GTPase binding | GO:0048365 | 6.05 |
| GDP binding | GO:0019003 | 5.81 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |