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Table 2 Functional annotation of HPO terms

From: PhenPath: a tool for characterizing biological functions underlying different phenotypes

Functional Annotation

Phenotypes (#)

HPO terms (%)

Non redundant functional terms (#)

with GO BP

6256

87.7%

6838 GO BP

with GO MF

6202

86.9%

2211 GO MF

with GO CC

5254

73.6%

946 GO CC

with KEGG

4198

58.8%

326 KEGG

with REACTOME

5550

77.8%

1369 REACTOME

  1. Statistics refer to 7137 HPO terms comprised in PhenPath and associated with 4292 diseases and 3446 genes. Terms included in PhenPath comprise 59% of the 12,111 terms listed in HPO. BP Biological Process, MF Molecular Function, CC Cellular Component, # number of