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. 2021 Apr 19;8:635074. doi: 10.3389/fmolb.2021.635074

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 10814±80.5 535 389 21 863 9613±93.4
KEGG 17 679 1 858 627±22.1 17 104 1 556 628±21.2
Reactome 82 826 3 278 1001±166.3 78 409 2 402 816±28.7
a

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.