Disease ID | Disease name | Source of annotation with NARS2 | 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 | HUMSAVAR | 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 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Gene Expression | R-HSA-74160 | 2.72 |
Mitochondrial tRNA aminoacylation | R-HSA-379726 | 8.59 |
tRNA Aminoacylation | R-HSA-379724 | 7.59 |
GO term | GO ID | GO IC |
---|---|---|
purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
heterocyclic compound binding | GO:1901363 | 1.06 |
nucleoside phosphate binding | GO:1901265 | 1.96 |
nucleoside binding | GO:0001882 | 2.21 |
aminoacyl-tRNA ligase activity | GO:0004812 | 5.93 |
asparagine-tRNA ligase activity | GO:0004816 | 9.05 |
nucleotide binding | GO:0000166 | 1.96 |
purine nucleoside binding | GO:0001883 | 2.22 |
ribonucleoside binding | GO:0032549 | 2.22 |
purine nucleotide binding | GO:0017076 | 2.19 |
ATP binding | GO:0005524 | 2.43 |
small molecule binding | GO:0036094 | 1.89 |
catalytic activity | GO:0003824 | 1.05 |
ligase activity | GO:0016874 | 3.72 |
ligase activity, forming carbon-oxygen bonds | GO:0016875 | 5.93 |
ligase activity, forming aminoacyl-tRNA and related compounds | GO:0016876 | 5.93 |
adenyl nucleotide binding | GO:0030554 | 2.4 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
organic cyclic compound binding | GO:0097159 | 1.05 |
adenyl ribonucleotide binding | GO:0032559 | 2.41 |
purine ribonucleotide binding | GO:0032555 | 2.2 |
purine ribonucleoside binding | GO:0032550 | 2.22 |
ribonucleotide binding | GO:0032553 | 2.19 |