| Disease ID | Disease name | Source of annotation with MRPL44 | 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 |
|---|---|---|
| double-stranded RNA-specific ribonuclease activity | GO:0032296 | 8.35 |
| hydrolase activity | GO:0016787 | 1.9 |
| nucleic acid binding | GO:0003676 | 1.44 |
| catalytic activity | GO:0003824 | 1.05 |
| ribonuclease III activity | GO:0004525 | 8.35 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| ribonuclease activity | GO:0004540 | 5.04 |
| endoribonuclease activity | GO:0004521 | 5.58 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| nuclease activity | GO:0004518 | 4.33 |
| endoribonuclease activity, producing 5'-phosphomonoesters | GO:0016891 | 6.02 |
| double-stranded RNA binding | GO:0003725 | 5.58 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| endonuclease activity | GO:0004519 | 4.78 |
| endonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters | GO:0016893 | 5.83 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA binding | GO:0003723 | 2.36 |