| Disease ID | Disease name | Source of annotation with PCNA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS604391 | ATAXIA-TELANGIECTASIA-LIKE DISORDER | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | PCNA, MRE11A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Base excision repair | hsa03410 | 7.6 |
| Hepatitis B | hsa05161 | 5.52 |
| DNA replication | hsa03030 | 7.48 |
| Mismatch repair | hsa03430 | 8.07 |
| Nucleotide excision repair | hsa03420 | 7.15 |
| HTLV-I infection | hsa05166 | 4.59 |
| Cell cycle | hsa04110 | 5.68 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Global Genomic NER (GG-NER) | R-HSA-109970 | 7.89 |
| Translesion Synthesis by POLH | R-HSA-110320 | 8.73 |
| Leading Strand Synthesis | R-HSA-69109 | 9.18 |
| 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 |
| Translesion synthesis by POLK | R-HSA-5655862 | 8.89 |
| G0 and Early G1 | R-HSA-1538133 | 8.34 |
| Repair synthesis for gap-filling by DNA polymerase in TC-NER | R-HSA-109977 | 9.08 |
| DNA Replication | R-HSA-69306 | 6.25 |
| Translesion synthesis by POLI | R-HSA-5656121 | 8.89 |
| Gap-filling DNA repair synthesis and ligation in GG-NER | R-HSA-74969 | 8.98 |
| 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 |
| Mitotic G1-G1/S phases | R-HSA-453279 | 5.91 |
| Repair synthesis of patch ~27-30 bases long by DNA polymerase | R-HSA-74967 | 9.08 |
| Recognition of DNA damage by PCNA-containing replication complex | R-HSA-110314 | 8.18 |
| 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 REV1 | R-HSA-110312 | 8.98 |
| 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 |
| Polymerase switching on the C-strand of the telomere | R-HSA-174411 | 9.18 |
| Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) | R-HSA-5358606 | 9.18 |
| E2F mediated regulation of DNA replication | R-HSA-113510 | 7.94 |
| G1/S Transition | R-HSA-69206 | 6.21 |
| G1/S-Specific Transcription | R-HSA-69205 | 8.89 |
| Extension of Telomeres | R-HSA-180786 | 8.12 |
| Termination of translesion DNA synthesis | R-HSA-5656169 | 8.08 |
| S Phase | R-HSA-69242 | 6.02 |
| Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) | R-HSA-5358565 | 9.18 |
| PCNA-Dependent Long Patch Base Excision Repair | R-HSA-5651801 | 8.73 |
| DNA Repair | R-HSA-73894 | 5.8 |
| 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 |
|---|---|---|
| hydrolase activity, hydrolyzing N-glycosyl compounds | GO:0016799 | 6.6 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| enzyme binding | GO:0019899 | 2.27 |
| mismatched DNA binding | GO:0030983 | 7.25 |
| 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 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| DNA polymerase binding | GO:0070182 | 7.25 |
| purine-specific mismatch base pair DNA N-glycosylase activity | GO:0000701 | 9.74 |
| mismatch base pair DNA N-glycosylase activity | GO:0000700 | 8.64 |
| receptor tyrosine kinase binding | GO:0030971 | 5.77 |
| dinucleotide insertion or deletion binding | GO:0032139 | 8.64 |
| protein complex binding | GO:0032403 | 3.09 |
| double-stranded DNA binding | GO:0003690 | 3.09 |
| protein tyrosine kinase binding | GO:1990782 | 5.7 |
| identical protein binding | GO:0042802 | 2.63 |
| mismatch repair complex binding | GO:0032404 | 7.66 |
| DNA polymerase processivity factor activity | GO:0030337 | 9.05 |
| hydrolase activity | GO:0016787 | 1.9 |
| steroid hormone receptor binding | GO:0035258 | 5.32 |
| estrogen receptor binding | GO:0030331 | 6.05 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| nuclear hormone receptor binding | GO:0035257 | 4.7 |
| DNA N-glycosylase activity | GO:0019104 | 7.03 |
| histone acetyltransferase binding | GO:0035035 | 6.41 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| hormone receptor binding | GO:0051427 | 4.57 |
| DNA insertion or deletion binding | GO:0032135 | 7.95 |
| catalytic activity | GO:0003824 | 1.05 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| MutLalpha complex binding | GO:0032405 | 7.95 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |
| chromatin binding | GO:0003682 | 3.64 |
| damaged DNA binding | GO:0003684 | 5.58 |