Two particular processes that appeared to be specific to the SD disease process point to the ribonucleoprotein (RNP) complex and the involvement of ion channel activity, the latter one being emphasized by emergence of novel enrichment for the term high voltage-gated calcium channel activity (q-value = 0.0498) in the GO analysis as well as voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels (q-value = 0.0013) in the SynGO analysis (Fig. 3c; Additional File 6). This evidence concerns the gene RNPC3 and Salla disease.