Disease ID | Disease name | Source of annotation with MTFMT | 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 |
256000 | LEIGH SYNDROME | ClinVar | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, SURF1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, FOXRED1, NDUFS4, NDUFA9 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Aminoacyl-tRNA biosynthesis | hsa00970 | 7.31 |
One carbon pool by folate | hsa00670 | 8.52 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Mitochondrial translation | R-HSA-5368287 | 6.49 |
Mitochondrial translation initiation | R-HSA-5368286 | 6.59 |
GO term | GO ID | GO IC |
---|---|---|
hydroxymethyl-, formyl- and related transferase activity | GO:0016742 | 7.66 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring one-carbon groups | GO:0016741 | 4.3 |
methionyl-tRNA formyltransferase activity | GO:0004479 | 9.74 |