| Disease ID | Disease name | Source of annotation with ACD | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS127550 | DYSKERATOSIS CONGENITA | OMIM, HUMSAVAR | link to OMIM | 10 | NOP10, WRAP53, TERT, ACD, TINF2, PARN, RTEL1, NHP2, DKC1, TERC |
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 |
|---|---|---|
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| DNA polymerase binding | GO:0070182 | 7.25 |
| protein binding | GO:0005515 | 0.46 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| enzyme binding | GO:0019899 | 2.27 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| 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 |
| telomeric DNA binding | GO:0042162 | 6.34 |