Table 4.
Number of citations retrieved and precision for each query, by diseases
| Disease | MeSH level alignment | n(retr) | Precision | ||||
|---|---|---|---|---|---|---|---|
| Q1 | Q2 | Q3 | p1 | p2 | p3 | ||
| 3M syndrome | SC | 38 | 5 | 31 | 1 | 0.4 | 0.4 |
| Autosomal recessive hypohidrotic ectodermal dysplasia | D | 25 | 21 | 12 | 0.8 | 0.4 | 0.8 |
| Generalized epilepsy - paroxysmal dyskinesia | SC | 0 | 18 | 6 | – | 0.5 | 0.17 |
| Silent sinus syndrome | – | 107 | 2 | 3 | 1 | 1 | 0.67 |
| Toluene embryopathy | SC | 8 | 39 | 0 | 1 | 0.2 | – |
| Familial drusen | SC | 67 | 54 | 9 | 1 | 0.1 | 0.78 |
| Autoimmune lymphoproliferative syndrome | D | 176 | 5 | 1800 | 1 | 1 | 0 |
| Diphtheria | D | 4419 | 0 | 13,149 | 1 | – | 0.6 |
| Hypomandibular faciocranial dysostosis | SC | 6 | 2 | 0 | 0.83 | 1 | – |
| Retroperitoneal fibrosis | D | 1986 | 0 | 711 | 1 | – | 0.6 |
| Epstein syndrome | SC | 41 | 0 | 0 | 1 | – | – |
| Oculopharyngeal muscular dystrophy | D | 291 | 31 | 129 | 0.9 | 1 | 0.6 |
| Ring chromosome 19 | SC | 6 | 4 | 2 | 1 | 0.75 | 1 |
| Nephropathy - deafness - hyperparathyroidism | SC | 0 | 1 | 0 | – | 1 | – |
| Greenberg dysplasia | SC | 7 | 4 | 6 | 1 | 1 | 0.83 |
| Menkes disease | D | 968 | 0 | 47,026 | 1 | – | 0 |
| Mikati-Najjar-Sahli syndrome | – | 0 | 1 | 0 | – | 1 | – |
| Genochondromatosis | SC | 5 | 0 | 0 | 1 | – | – |
| Noonan syndrome | D | 1483 | 0 | 258 | 0.8 | – | 0.5 |
| Carney complex | D | 248 | 21 | 299 | 0.9 | 1 | 0.7 |
| Blount disease | SC | 296 | 0 | 6 | 0.5 | – | 1 |
| Oculocerebrofacial syndrome, Kaufman type | SC | 5 | 0 | 0 | 1 | – | – |
| Wilson disease | D | 5266 | 0 | 1231 | 1 | – | 0.8 |
| Adult Still’s disease | D | 1129 | 0 | 202 | 1 | – | 0.8 |
| Esophageal atresia | D | 2999 | 75 | 479 | 0.9 | 1 | 0.6 |
| Congenital nephrotic syndrome, Finnish type | C | 8 | 239 | 43 | 0.88 | 0.8 | 0.1 |
| Thiamine-responsive megaloblastic anemia syndrome | SC | 69 | 34 | 39 | 1 | 0.6 | 0.1 |
| Hereditary myoclonus - progressive distal muscular atrophy | SC | 0 | 2 | 0 | – | 0.5 | – |
| Dentatorubral-pallidoluysian atrophy | C | 361 | 171 | 215 | 0.9 | 0 | 0.6 |
| Neuronal ceroid lipofuscinosis | D | 1371 | 0 | 1379 | 1 | – | 0.5 |
| Macro average precision | 0.81 | 0.44 | 0.41 | ||||
| Micro average precision | 0.94 | 0.61 | 0.52 | ||||
n(retr) number of citations retrieved, D MeSH Descriptor, SC MeSH Supplementary Concept, C MeSH Concept