| Disease ID | Disease name | Source of annotation with KARS | 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, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, SPG11, JPH1, PLEKHG5, NEFH, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, TRIM2, SBF1, DYNC1H1, MFN2, DNM2, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, SURF1, YARS, GARS |
| PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 60 | CLIC5, KARS, GJB2, CABP2, HGF, DFNB59, GIPC3, MET, EPS8, MYO3A, MARVELD2, CDH23, OTOF, ELMOD3, ESRRB, RDX, LRTOMT, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, TPRN, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, DCDC2, OTOGL, SLC26A5, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA |
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 |
| Mitochondrial tRNA aminoacylation | R-HSA-379726 | 8.59 |
| tRNA Aminoacylation | R-HSA-379724 | 7.59 |
| Gene Expression | R-HSA-74160 | 2.72 |
| 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 |
| 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 |
| aminoacyl-tRNA ligase activity | GO:0004812 | 5.93 |
| 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 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| tRNA binding | GO:0000049 | 5.95 |
| 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 |
| lysine-tRNA ligase activity | GO:0004824 | 9.74 |
| 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 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |