| Disease ID | Disease name | Source of annotation with POLD1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 612591 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | POLD1 |
| 615381 | MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME | OMIM | link to OMIM | 1 | POLD1 |
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 |
| Homologous recombination | hsa03440 | 7.91 |
| Mismatch repair | hsa03430 | 8.07 |
| 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 |
| Extension of Telomeres | R-HSA-180786 | 8.12 |
| 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 |
| DNA strand elongation | R-HSA-69190 | 7.94 |
| Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
| Polymerase switching | R-HSA-69091 | 9.18 |
| Chromosome Maintenance | R-HSA-73886 | 6.56 |
| Nucleotide Excision Repair | R-HSA-73885 | 7.34 |
| Base Excision Repair | R-HSA-73884 | 7.85 |
| Resolution of AP sites via the multiple-nucleotide patch replacement pathway | R-HSA-110373 | 8.52 |
| Synthesis of DNA | R-HSA-69239 | 6.37 |
| 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 |
| Processive synthesis on the C-strand of the telomere | R-HSA-174414 | 9.4 |
| 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 |
| Removal of the Flap Intermediate from the C-strand | R-HSA-174437 | 9.66 |
| Mismatch Repair | R-HSA-5358508 | 9.08 |
| Removal of the Flap Intermediate | R-HSA-69166 | 9.18 |
| Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) | R-HSA-5358606 | 9.18 |
| Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) | R-HSA-5358565 | 9.18 |
| Cytosolic iron-sulfur cluster assembly | R-HSA-2564830 | 9.28 |
| Polymerase switching on the C-strand of the telomere | R-HSA-174411 | 9.18 |
| Leading Strand Synthesis | R-HSA-69109 | 9.18 |
| Termination of translesion DNA synthesis | R-HSA-5656169 | 8.08 |
| 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 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Lagging Strand Synthesis | R-HSA-69186 | 8.59 |
| Processive synthesis on the lagging strand | R-HSA-69183 | 8.98 |
| DNA Damage Bypass | R-HSA-73893 | 7.46 |
| GO term | GO ID | GO IC |
|---|---|---|
| exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters | GO:0016796 | 5.89 |
| enzyme binding | GO:0019899 | 2.27 |
| 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 |
| ion binding | GO:0043167 | 1.36 |
| 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 |
| exodeoxyribonuclease activity | GO:0004529 | 6.79 |
| metal cluster binding | GO:0051540 | 5.55 |
| exonuclease activity | GO:0004527 | 5.33 |
| nucleotide binding | GO:0000166 | 1.96 |
| 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 |
| DNA polymerase activity | GO:0034061 | 5.93 |
| exodeoxyribonuclease activity, producing 5'-phosphomonoesters | GO:0016895 | 6.79 |
| 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 |
| 3'-5'-exodeoxyribonuclease activity | GO:0008296 | 7.54 |
| deoxyribonuclease activity | GO:0004536 | 5.48 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| chromatin binding | GO:0003682 | 3.64 |
| damaged DNA binding | GO:0003684 | 5.58 |