| Disease ID | Disease name | Source of annotation with AARS | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 37 | SZT2, EEF1A2, KCNT1, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, SCN8A, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, CDKL5, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, PNKP, SLC12A5, GABRA1, DOCK7, ARX, GRIN2B, NECAP1, PIGA |
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 |
|---|---|---|
| Cytosolic tRNA aminoacylation | R-HSA-379716 | 8.4 |
| tRNA Aminoacylation | R-HSA-379724 | 7.59 |
| Gene Expression | R-HSA-74160 | 2.72 |
| GO term | GO ID | GO IC |
|---|---|---|
| aminoacyl-tRNA editing activity | GO:0002161 | 7.25 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| ion binding | GO:0043167 | 1.36 |
| amino acid binding | GO:0016597 | 5.71 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| anion binding | GO:0043168 | 4.17 |
| cation binding | GO:0043169 | 1.4 |
| GO:0004813 | 8.64 | |
| aminoacyl-tRNA ligase activity | GO:0004812 | 5.93 |
| transition metal ion binding | GO:0046914 | 2.48 |
| 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 |
| metal ion binding | GO:0046872 | 1.41 |
| ATP binding | GO:0005524 | 2.43 |
| hydrolase activity | GO:0016787 | 1.9 |
| carboxylic ester hydrolase activity | GO:0052689 | 4.81 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| tRNA binding | GO:0000049 | 5.95 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| 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 |
| carboxylic acid binding | GO:0031406 | 4.64 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| RNA binding | GO:0003723 | 2.36 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| zinc ion binding | GO:0008270 | 2.66 |