| Disease ID | Disease name | Source of annotation with POT1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS155600 | MELANOMA, CUTANEOUS MALIGNANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | STK11, POT1, BRAF, TERT, PTEN, CDKN2A, MITF, TYR, MC1R, CDK4, XRCC3 |
| PS137800 | GLIOMA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | PTEN, PPARG, ERBB2, POT1, BRCA2, IDH2, IDH1, TP53 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Packaging Of Telomere Ends | R-HSA-171306 | 8.08 |
| DNA Damage/Telomere Stress Induced Senescence | R-HSA-2559586 | 7.15 |
| Cellular Senescence | R-HSA-2559583 | 5.7 |
| Telomere Maintenance | R-HSA-157579 | 7.1 |
| Cellular responses to stress | R-HSA-2262752 | 4.56 |
| Meiosis | R-HSA-1500620 | 6.59 |
| Meiotic synapsis | R-HSA-1221632 | 7.18 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Chromosome Maintenance | R-HSA-73886 | 6.56 |
| GO term | GO ID | GO IC |
|---|---|---|
| telomeric DNA binding | GO:0042162 | 6.34 |
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| protein binding | GO:0005515 | 0.46 |
| single-stranded telomeric DNA binding | GO:0043047 | 7.44 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| enzyme binding | GO:0019899 | 2.27 |
| telomerase inhibitor activity | GO:0010521 | 7.66 |
| sequence-specific single stranded DNA binding | GO:0098847 | 7.44 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| DEAD/H-box RNA helicase binding | GO:0017151 | 8.13 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| single-stranded DNA binding | GO:0003697 | 5.17 |
| G-rich strand telomeric DNA binding | GO:0098505 | 7.79 |