| Disease ID | Disease name | Source of annotation with POLH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 278750 | XERODERMA PIGMENTOSUM, VARIANT TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | POLH |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Fanconi anemia pathway | hsa03460 | 7.01 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| DNA Repair | R-HSA-73894 | 5.8 |
| Termination of translesion DNA synthesis | R-HSA-5656169 | 8.08 |
| Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template | R-HSA-110313 | 7.77 |
| Translesion Synthesis by POLH | R-HSA-110320 | 8.73 |
| DNA Damage Bypass | R-HSA-73893 | 7.46 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| nucleotidyltransferase activity | GO:0016779 | 4.81 |
| metal ion binding | GO:0046872 | 1.41 |
| nucleic acid binding | GO:0003676 | 1.44 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| DNA binding | GO:0003677 | 1.92 |
| DNA polymerase activity | GO:0034061 | 5.93 |
| damaged DNA binding | GO:0003684 | 5.58 |
| DNA-directed DNA polymerase activity | GO:0003887 | 6.41 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| ion binding | GO:0043167 | 1.36 |
| heterocyclic compound binding | GO:1901363 | 1.06 |