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. 2026 Jul 13;17:1880997. doi: 10.3389/fphar.2026.1880997

FIGURE 3.

Panel A displays a heatmap listing gene symbols in rows and functional categories in columns, with blue squares indicating gene-category associations and total counts on the right. Panel B shows a bar chart with counts labeled above each bar, indicating the distribution of gene-category associations from zero to seven. Panel C presents a pie chart dividing gene associations among KEGG, Biological Process, Cellular Component, Molecular Function, Disease DisGeNet, Human cell landscape, and Human phenotype ontology, with corresponding numbers labeled for each segment.

Multi-parametric functional annotation and scoring of 1288 IEM-associated genes (A) Table showing the integration of seven annotation features, including biological process, cellular component, molecular function, DisGeNET, Human Cell Landscape, Human Phenotype Ontology, and KEGG pathway memberships. Genes with higher cumulative scores indicate greater biological relevance (B) Distribution of genes by total annotation score, with 58 genes achieving scores ≥5 (C) Pie chart summarizing the number of enriched terms across the seven annotation categories. APOE and APOA2 obtained the highest composite scores, indicating representation across all seven annotation domains.