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Table 9 Seven true predictions out of the top 30 results (by HPOAnnotator) among all newly added annotations

From: HPOAnnotator: improving large-scale prediction of HPO annotations by low-rank approximation with HPO semantic similarities and multiple PPI networks

RankProtein IDProtein nameGene nameHPO IDHPO name
2Q02388Collagen alpha-1(VII) chain (Long-chain collagen) (LC collagen)COL7A1HP:0001072Thickened skin
7Q9UBX5Fibulin-5FBLN5 DANCE, UNQ184/PRO210HP:0012638Abnormality of nervous system physiology
17Q9H5I5Piezo-type mechanosensitive ion channel component 2 (Protein FAM38B)PIEZO2HP:0000422Abnormality of the nasal bridge
19O43175D-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)PHGDHHP:0000366Abnormality of the nose
24Q02388Collagen alpha-1(VII) chain (Long-chain collagen) (LC collagen)COL7A1HP:0000962Hyperkeratosis
26Q04656Copper-transporting ATPase 1 (EC 3.6.3.54) (Copper pump 1) (Menkes disease-associated protein)ATP7AHP:0002650Scoliosis
27P43026Growth/differentiation factor 5GDF5 BMP14, CDMP1HP:0005622Broad long bones
  1. These seven annotations were not in the training data (Data-201706), but found in the latest release (Data-201712)