Table 1.
Disease class names and acronyms, number of diseases and number of genes related to disease classes.
| Class name | Acronym | Number of diseases | % (of 1284) |
Number of genes | % (of 1751) |
| Skeletal | SKEL | 64 | 4.98% | 56 | 3.20% |
| Bone | BONE | 30 | 2.34% | 44 | 2.51% |
| Dermatological | DERM | 48 | 3.74% | 80 | 4.57% |
| Cancer | CANC | 113 | 8.80% | 207 | 11.82% |
| Developmental | DEVE | 37 | 2.88% | 53 | 3.03% |
| Multi-class disease | MCD | 155 | 12.07% | 209 | 11.94% |
| Cardiovascular | CARD | 41 | 3.19% | 96 | 5.48% |
| Muscular | MUSC | 31 | 2.41% | 68 | 3.88% |
| Immunological | IMMU | 69 | 5.37% | 115 | 6.57% |
| Ophthamological | OPHT | 62 | 4.83% | 120 | 6.85% |
| Connective tissue disorder | CTD | 28 | 2.18% | 51 | 2.91% |
| Endocrine | ENDO | 56 | 4.36% | 96 | 5.48% |
| Neurological | NEUR | 117 | 9.11% | 254 | 14.51% |
| Psychiatric | PSYC | 17 | 1.32% | 30 | 1.71% |
| Ear, Nose, Throat | ENT | 6 | 0.47% | 44 | 2.51% |
| Respiratory | RESP | 13 | 1.01% | 34 | 1.94% |
| Renal | RENA | 36 | 2.80% | 58 | 3.31% |
| Hematological | HEMA | 88 | 6.85% | 146 | 8.34% |
| Nutritional | NUTR | 4 | 0.31% | 22 | 1.26% |
| Gastrointestinal | GI | 23 | 1.79% | 34 | 1.94% |
| Unclassified | UNCL | 31 | 2.41% | 29 | 1.66% |
| Metabolic | META | 215 | 16.74% | 289 | 16.50% |
| Multiple class genes | MULT | 295 | 16.85% | ||
| Disease genes | DIS | 1751 | 100.00% | ||
| Human genes | HUM | 18109 |
The same order of classes is used in graphs in the Results section; the first 22 classes are sorted in descending order with respect to the median of disorder content (defined in Experimental procedures). The difference between "multi-class diseases" and "multiple class genes" is that "multi-class diseases" set includes genes that are only related to diseases that are classified as "multiple" in [47], whereas "multiple class genes" includes genes that are related to several diseases that belong to different classes.