Beyond the overlapping genes between OMIM and AS, YS-specific genes exhibit significant enrichment for neuromuscular and metabolic pathologies: (1) MYOT- and CASQ1-associated myopathies [25, 26]; (2) CSRP3-mediated cardiomyopathies [27]; (3) LCAT-related norum disease, a rare autosomal recessive lipid metabolism disorder [28]. The gene discussed is CASQ1; the disease is myopathy.