Disease ID | Disease name | Source of annotation with ELAC2 | 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 |
614731 | PROSTATE CANCER, HEREDITARY, 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ELAC2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
RNA transport | hsa03013 | 5.37 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
tRNA-specific ribonuclease activity | GO:0004549 | 6.97 |
cation binding | GO:0043169 | 1.4 |
nuclease activity | GO:0004518 | 4.33 |
organic cyclic compound binding | GO:0097159 | 1.05 |
poly(A) RNA binding | GO:0044822 | 2.69 |
ribonuclease activity | GO:0004540 | 5.04 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
endonuclease activity | GO:0004519 | 4.78 |
metal ion binding | GO:0046872 | 1.41 |
heterocyclic compound binding | GO:1901363 | 1.06 |
RNA binding | GO:0003723 | 2.36 |