| Disease ID | Disease name | Source of annotation with POLG | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS603041 | MITOCHONDRIAL DNA DEPLETION SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | SLC25A4, AGK, C10orf2, FBXL4, SUCLG1, MGME1, POLG, MPV17, TK2, OPA1, SUCLA2, DGUOK, RRM2B, TYMP |
| PS157640 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | SLC25A4, DNA2, C10orf2, RRM2B, RNASEH1, POLG, POLG2 |
| 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 |
| 607459 | SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | POLG, C10orf2, PRICKLE2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| 3'-5' exonuclease activity | GO:0008408 | 5.83 |
| enzyme binding | GO:0019899 | 2.27 |
| nucleic acid binding | GO:0003676 | 1.44 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| nuclease activity | GO:0004518 | 4.33 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| exonuclease activity | GO:0004527 | 5.33 |
| DNA binding | GO:0003677 | 1.92 |
| nucleotidyltransferase activity | GO:0016779 | 4.81 |
| DNA polymerase activity | GO:0034061 | 5.93 |
| DNA-directed DNA polymerase activity | GO:0003887 | 6.41 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| protease binding | GO:0002020 | 5.08 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| chromatin binding | GO:0003682 | 3.64 |
| heterocyclic compound binding | GO:1901363 | 1.06 |