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Fig. 1 | BMC Bioinformatics

Fig. 1

From: PhenoExam: gene set analyses through integration of different phenotype databases

Fig. 1

Schematic representation of PhenoExam integrated databases and offered analyses. We can use PhenoExam with human or mouse genes. PhenoExam annotation databases include HPO, MGI, CRISPRBrain, CTD, ClinGen, OrphaNET, UniProt PsyGeNET, CGI and Genomics England. The tool offers a variety of analyses. Given a gene set of interest, G, the user can evaluate its enrichment for phenotypes and disease in all or a subset of the offered databases. Given two gene sets, G and G′, the user can evaluate whether the phenotype terms enriched in G are also enriched in G′ when G and G′ do not overlap e.g., G′ was predicted from G, with the Conditional Enrichment Analysis. If G and G′ show some gene overlap, the user can assess whether the gene sets show any differential phenotypes through the Differential Phenotype Analysis. We acknowledge all the sources for their contributions and we are grateful to those who permitted us to use their logos in this figure

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