Fig. 7: Overrepresentation analysis using discriminating proteins in C8a^−/− and Npc2^+/− mice.

a–d Overrepresentation analyses of discriminating proteins in C8a^−/− mice using gene ontology—GO, molecular signature—MsigDB, disease-gene association—DisGeNET, and medical subject heading for human diseases—MeSH. e–h Overrepresentation analyses of significantly discriminating proteins in Npc2^+/− mice. For C8a^−/− all discriminating proteins from the significance test (Table 1 and Fig. 6a) as well as LASSO regression (Supplementary Table 2) were used, where for Npc2^+/− discriminating proteins from only the significance test were used (Table 1 and Fig. 6b). Details on protein selection are in text under “Proteomic phenotyping of gene deficiency in knockout mice using plasma”. Additional overrepresentation analyses, including molecular pathways using KEGG and Reactome knowledgebases, MeSH processes in mouse and human as well as Disease Ontology can be found in the Supplementary Material; in Supplementary ORA-report 1 discriminating proteins form the significance test were used, and in Supplementary ORA-report 2 discriminating proteins form the significance test as well as LASSO regression were used. Other KO mouse strains are also included in the two overrepresentation analysis reports. Gray circles refer to proteins, colored circles to ORA corresponding annotations, color corresponds to p value and Benjamini–Hochberg adjusted p value as in the color key, and size of annotation circles corresponds to number of connections.