Differentially expressed (both up/downregulated) gene pathways from Reactome overrepresentation analysis of significantly up/downregulated genes in six affected individuals compared with sex-matched controls and a log(fold change) >1.5 were used in gene set enrichment analysis of pathway and gene ontology.

Pathways with an entities p value <0.05 were considered significantly dysregulated. (A) List of upregulated gene pathways. (B) List of downregulated gene pathways. (C) List of combined dysregulated gene pathways (both up/downregulated). #Entities found: the number of curated molecules that are common between the submitted data set and the named pathway. #Entities total: The total number of curated molecules within the pathway. Entities ratio: The proportion of Reactome pathway molecules represented by this pathway. Calculated as the ratio of entities from this pathway that are found in the submitted data set Vs. all entities within the pathway. Entities pvalue: The result of the statistical test for over-representation: the probability that the overlap between the query and the pathway has occurred by chance. Entities FDR: False discovery rate. Corrected over-representation probability. #Reactions found: The number of reactions in the pathway that are represented by at least one molecule in the submitted data set. #Reactions Total: The number of reactions in the pathway. Reactions ratio: The proportion of Reactome reactions represented by this pathway. Calculated as the ratio of reactions from this pathway that are found within the submitted data set Vs. all Reactome reactions within the pathway. Submitted entities found: genes identified from the submitted list.

(XLSX)