| Disease ID | Disease name | Source of annotation with BRCA1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 614320 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | OMIM | link to OMIM | 1 | BRCA1 |
| PS227650 | FANCONI ANEMIA | ClinVar | link to OMIM | 18 | BRIP1, FANCL, FANCC, FANCG, FANCB, ERCC4, FANCA, SLX4, FANCI, BRCA2, UBE2T, PALB2, BRCA1, FANCD2, FANCF, FANCM, RAD51C, FANCE |
| 114480 | BREAST CANCER | HUMSAVAR | link to OMIM | 27 | RB1CC1, ESR1, NBN, PALB2, SLC22A18, BRIP1, BCPR, CASP8, FAM175A, TSG101, CHEK2, BARD1, TP53, AKT1, BRCA1, PIK3CA, PHB, PPM1D, NQO2, ATM, RAD51, BRCA2, CDH1, XRCC3, HMMR, KRAS, RAD54L |
| PS604370 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | BRCA2, RAD51D, RAD51C, BRCA1 |
| 167000 | OVARIAN CANCER | HUMSAVAR | link to OMIM | 9 | AKT1, PARK2, CTNNB1, CDH1, BRCA1, RRAS2, PIK3CA, OPCML, SEPT9 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| Fanconi anemia pathway | hsa03460 | 7.01 |
| MicroRNAs in cancer | hsa05206 | 5.38 |
| Ubiquitin mediated proteolysis | hsa04120 | 5.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| G2/M Checkpoints | R-HSA-69481 | 6.46 |
| Homologous recombination repair of replication-independent double-strand breaks | R-HSA-73951 | 8.98 |
| G2/M DNA damage checkpoint | R-HSA-69473 | 7.15 |
| Homologous Recombination Repair | R-HSA-73888 | 8.98 |
| Meiotic recombination | R-HSA-912446 | 7.25 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| 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 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Meiotic synapsis | R-HSA-1221632 | 7.18 |
| SUMOylation | R-HSA-2990846 | 6.68 |
| SUMOylation of DNA damage response and repair proteins | R-HSA-3108214 | 6.77 |
| Recruitment of repair and signaling proteins to double-strand breaks | R-HSA-75154 | 9.98 |
| DNA Repair | R-HSA-73894 | 5.8 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| ATM mediated phosphorylation of repair proteins | R-HSA-75148 | 10.66 |
| Double-Strand Break Repair | R-HSA-73890 | 8.46 |
| SUMO E3 ligases SUMOylate target proteins | R-HSA-3108232 | 6.77 |
| Fanconi Anemia pathway | R-HSA-419524 | 8.4 |
| GO term | GO ID | GO IC |
|---|---|---|
| ubiquitin-like protein ligase binding | GO:0044389 | 4.15 |
| androgen receptor binding | GO:0050681 | 6.07 |
| enzyme binding | GO:0019899 | 2.27 |
| 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 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
| transcription coactivator activity | GO:0003713 | 4.04 |
| transcription cofactor activity | GO:0003712 | 3.44 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
| transcription factor activity, protein binding | GO:0000988 | 3.35 |
| metal ion binding | GO:0046872 | 1.41 |
| tubulin binding | GO:0015631 | 4.1 |
| steroid hormone receptor binding | GO:0035258 | 5.32 |
| regulatory region nucleic acid binding | GO:0001067 | 3.03 |
| nuclear hormone receptor binding | GO:0035257 | 4.7 |
| catalytic activity | GO:0003824 | 1.05 |
| hormone receptor binding | GO:0051427 | 4.57 |
| ligase activity | GO:0016874 | 3.72 |
| transcription regulatory region DNA binding | GO:0044212 | 3.03 |
| ubiquitin protein ligase binding | GO:0031625 | 4.17 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| regulatory region DNA binding | GO:0000975 | 3.03 |
| receptor binding | GO:0005102 | 2.43 |
| chromatin binding | GO:0003682 | 3.64 |
| damaged DNA binding | GO:0003684 | 5.58 |
| zinc ion binding | GO:0008270 | 2.66 |