Table 5.
Patient similarity measurement between HPOEmb-Orphanet and five conventional similarity measurements (The highest similarity score in bold.)
| Rare diseases | Shared same phenotypes per pairwise patients (average percentage) | HPOSim-Lin | HPOSim-ICE | HPOSim-RL | HPOSim-GIC | HPOSim-Wang | HPOEmb-Orphanet |
|---|---|---|---|---|---|---|---|
| ovarian cancer | 6.67% | 0.42 | 0.31 | 0.38 | 0 | 0.41 | 0.55 |
| myelofibrosis | 2.5% | 0.25 | 0.17 | 0.28 | 0.11 | 0.23 | 0.33 |
| primary sclerosing cholangitis | 10% | 0.42 | 0.29 | 0.36 | 0.05 | 0.46 | 0.56 |
| b-cell lymphoma | 50% | 1 | 0.83 | 0.99 | 1 | 1 | 1 |
| dilated cardiomyopathy | 43.2% | 0.97 | 0.72 | 0.91 | 0 | 0.96 | 0.95 |
| laryngomalacia | 43.3% | 1 | 0.82 | 0.99 | 1 | 1 | 0.9 |
| cryoglobulinemia | 9.64% | 0.09 | 0.06 | 0.08 | 0.04 | 0.4 | 0.56 |
| esophageal cancer | 5% | 0.23 | 0.17 | 0.22 | 0 | 0.25 | 0.36 |
| papillary thyroid carcinoma | 43.3% | 1 | 0.84 | 0.99 | 1 | 1 | 0.97 |
| clear cell renal cell carcinoma | 46% | 1 | 0.82 | 0.99 | 1 | 1 | 0.96 |
| Average | 26% | 0.64 | 0.5 | 0.62 | 0.42 | 0.67 | 0.71 |