| Disease ID | Disease name | Source of annotation with NHP2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS127550 | DYSKERATOSIS CONGENITA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 10 | NOP10, WRAP53, TERT, ACD, TINF2, PARN, RTEL1, NHP2, DKC1, TERC |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Ribosome biogenesis in eukaryotes | hsa03008 | 6.54 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Chromosome Maintenance | R-HSA-73886 | 6.56 |
| Telomere Extension By Telomerase | R-HSA-171319 | 10.4 |
| Extension of Telomeres | R-HSA-180786 | 8.12 |
| Telomere Maintenance | R-HSA-157579 | 7.1 |
| GO term | GO ID | GO IC |
|---|---|---|
| nucleic acid binding | GO:0003676 | 1.44 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| telomerase RNA binding | GO:0070034 | 7.1 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| box H/ACA snoRNA binding | GO:0034513 | 8.35 |
| snoRNA binding | GO:0030515 | 6.41 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA binding | GO:0003723 | 2.36 |