TABLE 5.
Co-mention validation of phenotype-function pairs. “All” corresponds to all pairs including a function from Table 4. “Confirmed” refers to the number of these pairs that were significantly co-mentioned in PubMed. “Random” refers to the number of pairs in a randomised list based on “All” pairs that were significantly co-mentioned in PubMed; average of 100 random datasets ± SD is shown in this case.
Paired | Phenotypes | |||||
---|---|---|---|---|---|---|
function | OMIM | Orphanet | ||||
All | Confirmed | Random a | All | Confirmed | Random a | |
GO | 567 721 | 26 841 | 535 389 | 21 863 | ||
KEGG | 17 679 | 1 858 | 17 104 | 1 556 | ||
Reactome | 82 826 | 3 278 | 78 409 | 2 402 |
The randomised phenotype-function pair set was formed by shuffling the links between the pairs in each list, keeping the total number of links per phenotype/function unchanged. This sampling procedure was repeated to produce 100 different replicas of randomised phenotype-function pairs. These sets were used in the corresponding Fisher’s exact tests.