| Disease ID | Disease name | Source of annotation with POLE | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 615083 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | POLE |
| 615139 | FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE | ClinVar, OMIM | link to OMIM | 1 | POLE |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Purine metabolism | hsa00230 | 5.28 |
| DNA replication | hsa03030 | 7.48 |
| Nucleotide excision repair | hsa03420 | 7.15 |
| HTLV-I infection | hsa05166 | 4.59 |
| Base excision repair | hsa03410 | 7.6 |
| Pyrimidine metabolism | hsa00240 | 6.01 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Global Genomic NER (GG-NER) | R-HSA-109970 | 7.89 |
| Repair synthesis for gap-filling by DNA polymerase in TC-NER | R-HSA-109977 | 9.08 |
| DNA replication initiation | R-HSA-68952 | 10.4 |
| Gap-filling DNA repair synthesis and ligation in TC-NER | R-HSA-109979 | 8.98 |
| Transcription-coupled NER (TC-NER) | R-HSA-73937 | 7.49 |
| Resolution of Abasic Sites (AP sites) | R-HSA-73933 | 7.85 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Recognition of DNA damage by PCNA-containing replication complex | R-HSA-110314 | 8.18 |
| Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
| Chromosome Maintenance | R-HSA-73886 | 6.56 |
| Nucleotide Excision Repair | R-HSA-73885 | 7.34 |
| Base Excision Repair | R-HSA-73884 | 7.85 |
| Termination of translesion DNA synthesis | R-HSA-5656169 | 8.08 |
| Synthesis of DNA | R-HSA-69239 | 6.37 |
| Mitotic G1-G1/S phases | R-HSA-453279 | 5.91 |
| Activation of the pre-replicative complex | R-HSA-68962 | 8.08 |
| Repair synthesis of patch ~27-30 bases long by DNA polymerase | R-HSA-74967 | 9.08 |
| Gap-filling DNA repair synthesis and ligation in GG-NER | R-HSA-74969 | 8.98 |
| Telomere C-strand (Lagging Strand) Synthesis | R-HSA-174417 | 8.46 |
| Telomere Maintenance | R-HSA-157579 | 7.1 |
| Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template | R-HSA-110313 | 7.77 |
| Telomere C-strand synthesis initiation | R-HSA-174430 | 10.4 |
| DNA Replication Pre-Initiation | R-HSA-69002 | 6.62 |
| G1/S Transition | R-HSA-69206 | 6.21 |
| Extension of Telomeres | R-HSA-180786 | 8.12 |
| Resolution of AP sites via the multiple-nucleotide patch replacement pathway | R-HSA-110373 | 8.52 |
| S Phase | R-HSA-69242 | 6.02 |
| DNA Replication | R-HSA-69306 | 6.25 |
| PCNA-Dependent Long Patch Base Excision Repair | R-HSA-5651801 | 8.73 |
| DNA Repair | R-HSA-73894 | 5.8 |
| M/G1 Transition | R-HSA-68874 | 6.62 |
| DNA Damage Bypass | R-HSA-73893 | 7.46 |
| GO term | GO ID | GO IC |
|---|---|---|
| DNA polymerase activity | GO:0034061 | 5.93 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| cation binding | GO:0043169 | 1.4 |
| 3'-5' exonuclease activity | GO:0008408 | 5.83 |
| metal cluster binding | GO:0051540 | 5.55 |
| transition metal ion binding | GO:0046914 | 2.48 |
| exonuclease activity | GO:0004527 | 5.33 |
| ion binding | GO:0043167 | 1.36 |
| DNA-directed DNA polymerase activity | GO:0003887 | 6.41 |
| transferase activity | GO:0016740 | 1.95 |
| metal ion binding | GO:0046872 | 1.41 |
| hydrolase activity | GO:0016787 | 1.9 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| nucleotidyltransferase activity | GO:0016779 | 4.81 |
| 4 iron, 4 sulfur cluster binding | GO:0051539 | 6.0 |
| nuclease activity | GO:0004518 | 4.33 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| iron-sulfur cluster binding | GO:0051536 | 5.55 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| chromatin binding | GO:0003682 | 3.64 |
| zinc ion binding | GO:0008270 | 2.66 |