Thrombocytopenia (HP:0001873)
A reduction in the number of circulating thrombocytes.
Synonyms: Low platelet count
Comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).
Cross References: MSH:D013921, SNOMEDCT_US:302215000, SNOMEDCT_US:415116008, UMLS:C0040034, UMLS:C0392386
KEGG Pathway
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | Fanconi anemia pathway | 8.485e-27 | 6.788e-26 | 199460.00 | 11973883.48 |
| 2 | Homologous recombination | 9.499e-7 | 0.000003800 | 225.02 | 3120.36 |
| 3 | Ubiquitin mediated proteolysis | 0.002110 | 0.005627 | 35.96 | 221.57 |
| 4 | Pancreatic cancer | 0.03736 | 0.07473 | 29.50 | 96.98 |
| 5 | Breast cancer | 0.07113 | 0.1138 | 15.10 | 39.92 |
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | interstrand cross-link repair (GO:0036297) | 8.598e-20 | 1.307e-17 | 1697.28 | 74510.81 |
| 2 | DNA repair (GO:0006281) | 3.166e-16 | 2.406e-14 | 613.53 | 21896.03 |
| 3 | double-strand break repair via synthesis-dependent strand annealing (GO:0045003) | 0.000002248 | 0.00004271 | 1665.58 | 21661.60 |
| 4 | double-strand break repair via homologous recombination (GO:0000724) | 5.976e-10 | 3.028e-8 | 216.28 | 4593.43 |
| 5 | resolution of meiotic recombination intermediates (GO:0000712) | 0.00002690 | 0.0004089 | 356.71 | 3753.85 |
GO: Molecular Function
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | DNA polymerase binding (GO:0070182) | 0.00003428 | 0.0009598 | 312.09 | 3208.63 |
| 2 | four-way junction helicase activity (GO:0009378) | 0.002997 | 0.01892 | 444.11 | 2580.41 |
| 3 | crossover junction endodeoxyribonuclease activity (GO:0008821) | 0.002997 | 0.01892 | 444.11 | 2580.41 |
| 4 | 5′-flap endonuclease activity (GO:0017108) | 0.003994 | 0.01892 | 317.19 | 1751.86 |
| 5 | flap endonuclease activity (GO:0048256) | 0.004492 | 0.01892 | 277.53 | 1500.17 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | condensed chromosome (GO:0000793) | 0.0003175 | 0.001429 | 95.86 | 772.11 |
| 2 | condensed nuclear chromosome (GO:0000794) | 0.009957 | 0.01792 | 116.79 | 538.34 |
| 3 | chromosome (GO:0005694) | 0.00005786 | 0.0005207 | 54.14 | 528.26 |
| 4 | nuclear chromosome (GO:0000228) | 0.04074 | 0.06111 | 26.98 | 86.34 |
| 5 | nucleus (GO:0005634) | 0.001775 | 0.005324 | 8.09 | 51.21 |
Hub genes predicted as biomarkers & predicted FDA approved drugs
| Hub Genes (ranked) | FDA-Approved Drugs |
| BRCA1 | – |
| RAD51 | – |
| FANCM | – |
| PALB2 | MITOMYCIN, OLAPRIB |
| SLX4 | – |
| FANCA | CISPLATIN |
| FANCD2 | DOXORUBICIN HYDROCHLORIDE |
| FANCC | MITOMYCIN, CHLORAMBUCIL, MELPHALAN |
| FANCE | – |
| FANCL | – |
