| Disease ID | Disease name | Source of annotation with TERT | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS155600 | MELANOMA, CUTANEOUS MALIGNANT | ClinVar, OMIM | link to OMIM | 11 | STK11, POT1, BRAF, TERT, PTEN, CDKN2A, MITF, TYR, MC1R, CDK4, XRCC3 |
| 601626 | LEUKEMIA, ACUTE MYELOID | ClinVar, OMIM | link to OMIM | 23 | FLT3, RUNX1, WHSC1L1, KIT, MLF1, CHIC2, CEBPA, LPP, SH3GL1, PICALM, NPM1, CBFB, ETV6, SETBP1, MLLT10, TERT, NUP214, JAK2, GATA2, TGM6, DDX41, NSD1, KRAS |
| 178500 | PULMONARY FIBROSIS, IDIOPATHIC | ClinVar | link to OMIM | 6 | MUC5B, TERT, SFTPA1, RTEL1, SFTPA2, TERC |
| PS127550 | DYSKERATOSIS CONGENITA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 10 | NOP10, WRAP53, TERT, ACD, TINF2, PARN, RTEL1, NHP2, DKC1, TERC |
| PS614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | PARN, TERC, RTEL1, TERT |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| HTLV-I infection | hsa05166 | 4.59 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by Wnt | R-HSA-195721 | 4.79 |
| formation of the beta-catenin:TCF transactivating complex | R-HSA-201722 | 7.18 |
| Telomere Maintenance | R-HSA-157579 | 7.1 |
| Extension of Telomeres | R-HSA-180786 | 8.12 |
| Telomere Extension By Telomerase | R-HSA-171319 | 10.4 |
| TCF dependent signaling in response to WNT | R-HSA-201681 | 5.36 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Chromosome Maintenance | R-HSA-73886 | 6.56 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| RNA polymerase activity | GO:0034062 | 5.93 |
| DNA polymerase activity | GO:0034061 | 5.93 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| tRNA binding | GO:0000049 | 5.95 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| metal ion binding | GO:0046872 | 1.41 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| telomerase activity | GO:0003720 | 7.79 |
| cation binding | GO:0043169 | 1.4 |
| telomeric DNA binding | GO:0042162 | 6.34 |
| transcription factor binding | GO:0008134 | 3.46 |
| catalytic activity | GO:0003824 | 1.05 |
| RNA-directed RNA polymerase activity | GO:0003968 | 9.05 |
| RNA-directed DNA polymerase activity | GO:0003964 | 6.85 |
| nucleotidyltransferase activity | GO:0016779 | 4.81 |
| transcription cofactor binding | GO:0001221 | 6.52 |
| transcription coactivator binding | GO:0001223 | 7.34 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| telomerase RNA binding | GO:0070034 | 7.1 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| telomerase RNA reverse transcriptase activity | GO:0003721 | 9.74 |
| protein dimerization activity | GO:0046983 | 2.72 |