Functional profiling of the complete list of proteins (n = 54) (Figure 2 (AS) and Supplementary Table S4) revealed predominantly an enrichment of extracellular compartment proteins including those assigned to the immune system (e.g., EPRS, HLA-C, LGALS1, USP14), hematopoietic system/angiogenesis (e.g., ARPC5, CA2, CDC42, EMILIN1, HBG1, HNRNPA1, HNRNPA3, LTBP1, MPO, VASP) and anemia in specific (e.g., ANK1, EPB42, SLC4A1, SPTA1). The gene discussed is EPB42; the disease is anemia (phenotype).