Table 9 Seven true predictions out of the top 30 results (by HPOAnnotator) among all newly added annotations
Rank | Protein ID | Protein name | Gene name | HPO ID | HPO name |
|---|---|---|---|---|---|
2 | Q02388 | Collagen alpha-1(VII) chain (Long-chain collagen) (LC collagen) | COL7A1 | HP:0001072 | Thickened skin |
7 | Q9UBX5 | Fibulin-5 | FBLN5 DANCE, UNQ184/PRO210 | HP:0012638 | Abnormality of nervous system physiology |
17 | Q9H5I5 | Piezo-type mechanosensitive ion channel component 2 (Protein FAM38B) | PIEZO2 | HP:0000422 | Abnormality of the nasal bridge |
19 | O43175 | D-3-phosphoglycerate dehydrogenase (3-PGDH) (EC 1.1.1.95) (2-oxoglutarate reductase) (EC 1.1.1.399) (Malate dehydrogenase) (EC 1.1.1.37) | PHGDH | HP:0000366 | Abnormality of the nose |
24 | Q02388 | Collagen alpha-1(VII) chain (Long-chain collagen) (LC collagen) | COL7A1 | HP:0000962 | Hyperkeratosis |
26 | Q04656 | Copper-transporting ATPase 1 (EC 3.6.3.54) (Copper pump 1) (Menkes disease-associated protein) | ATP7A | HP:0002650 | Scoliosis |
27 | P43026 | Growth/differentiation factor 5 | GDF5 BMP14, CDMP1 | HP:0005622 | Broad long bones |