| Disease ID | Disease name | Source of annotation with MRPS22 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS609060 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 29 | C12orf65, FARS2, GFM1, TARS2, MTFMT, MTO1, AIFM1, EARS2, NARS2, SFXN4, MRPS22, PNPT1, TSFM, ATP5A1, LYRM4, SLC25A26, MRPS16, MRPL3, TUFM, TRMT5, MRPL44, GTPBP3, VARS2, CARS2, RMND1, ELAC2, AARS2, TXN2, MARS2 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Mitochondrial translation | R-HSA-5368287 | 6.49 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Mitochondrial translation elongation | R-HSA-5389840 | 6.59 |
| Mitochondrial translation initiation | R-HSA-5368286 | 6.59 |
| Mitochondrial translation termination | R-HSA-5419276 | 6.59 |
| GO term | GO ID | GO IC |
|---|---|---|
| structural constituent of ribosome | GO:0003735 | 4.32 |
| structural molecule activity | GO:0005198 | 3.1 |