| Disease ID | Disease name | Source of annotation with NBN | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 114480 | BREAST CANCER | HUMSAVAR | link to OMIM | 27 | RB1CC1, ESR1, NBN, PALB2, SLC22A18, BRIP1, BCPR, CASP8, FAM175A, TSG101, CHEK2, BARD1, TP53, AKT1, BRCA1, RAD51, PHB, PPM1D, NQO2, ATM, PIK3CA, BRCA2, CDH1, XRCC3, HMMR, KRAS, RAD54L |
| 251260 | NIJMEGEN BREAKAGE SYNDROME | ClinVar, OMIM | link to OMIM | 1 | NBN |
| 609135 | APLASTIC ANEMIA | OMIM | link to OMIM | 4 | NBN, PRF1, IFNG, SBDS |
| 613065 | LEUKEMIA, ACUTE LYMPHOBLASTIC | OMIM | link to OMIM | 9 | PAX5, BCR, BAX, FLT3, NBN, TAL2, TAL1, NUP214, TCF3 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Homologous recombination | hsa03440 | 7.91 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| G2/M Checkpoints | R-HSA-69481 | 6.46 |
| DNA Damage/Telomere Stress Induced Senescence | R-HSA-2559586 | 7.15 |
| Cellular Senescence | R-HSA-2559583 | 5.7 |
| Homologous recombination repair of replication-independent double-strand breaks | R-HSA-73951 | 8.98 |
| MRN complex relocalizes to nuclear foci | R-HSA-83572 | 10.98 |
| Homologous Recombination Repair | R-HSA-73888 | 8.98 |
| Meiotic recombination | R-HSA-912446 | 7.25 |
| Cellular responses to stress | R-HSA-2262752 | 4.56 |
| ATM mediated response to DNA double-strand break | R-HSA-83542 | 10.66 |
| Cell Cycle Checkpoints | R-HSA-69620 | 5.64 |
| Meiosis | R-HSA-1500620 | 6.59 |
| Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks | R-HSA-75177 | 10.98 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Recruitment of repair and signaling proteins to double-strand breaks | R-HSA-75154 | 9.98 |
| DNA Repair | R-HSA-73894 | 5.8 |
| ATM mediated phosphorylation of repair proteins | R-HSA-75148 | 10.66 |
| Double-Strand Break Repair | R-HSA-73890 | 8.46 |
| G2/M DNA damage checkpoint | R-HSA-69473 | 7.15 |
| GO term | GO ID | GO IC |
|---|---|---|
| nucleic acid binding | GO:0003676 | 1.44 |
| ATP-dependent helicase activity | GO:0008026 | 5.12 |
| binding | GO:0005488 | 0.18 |
| ATPase activity | GO:0016887 | 3.65 |
| DNA binding | GO:0003677 | 1.92 |
| DNA helicase activity | GO:0003678 | 5.73 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| ATPase activity, coupled | GO:0042623 | 3.97 |
| hydrolase activity | GO:0016787 | 1.9 |
| ATP-dependent DNA helicase activity | GO:0004003 | 6.13 |
| transcription factor binding | GO:0008134 | 3.46 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| helicase activity | GO:0004386 | 4.69 |
| catalytic activity | GO:0003824 | 1.05 |
| DNA-dependent ATPase activity | GO:0008094 | 5.31 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| purine NTP-dependent helicase activity | GO:0070035 | 5.12 |
| protein binding | GO:0005515 | 0.46 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| damaged DNA binding | GO:0003684 | 5.58 |