TABLE 4.
Numbers of genes and functions associated with phenotypes. Total: all genes in each dataset. “Any”: genes/functions associated with any phenotype. “Only NMD”: genes/functions associated with a typical NMD phenotype.
| Feature | OMIM-based | Orphanet-based | OMIM-Orphanet overlap | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genes | GOs | KEGG | Reac | Genes | GOs | KEGG | Reac | Genes | GOs | KEGG | Reac | |
| Total | 4015 | - | - | - | 2730 | - | - | - | 2452 | - | - | - |
| Any | 3870 | 6398 | 214 | 1397 | 2700 | 6281 | 209 | 1356 | 2374 | 6260 | 208 | 1348 |
| Only NMD | 1078 | 3747 | 142 | 821 | 611 | 3618 | 123 | 631 | 360 | 2666 | 102 | 451 |
“-”: not considered or relevant in the analysis.