When mapping to the Disease Ontology, three muscle-related diseases were enriched including myoglobinuria (LPIN1, PGAM2, and GSR), muscular disease (DES, CLU, PRKCD, HMGCR, CAPN3, SDHA, PPARA, and PYGM), and myopathy (DYSF, DES, PLEC, CAPN3, SCN4A, TNNT1, SDHA, MYH7, and PYGM) (Table 4). The gene discussed is PLEC; the disease is myopathy.