Disease ID | Disease name | Source of annotation with MRPS16 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS609060 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY | ClinVar, OMIM | 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
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Ribosome | hsa03010 | 5.69 |
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 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
structural molecule activity | GO:0005198 | 3.1 |