Notably, these included well-studied genes such as LDLR (DE in {CORTEX, HIPPOC, SKM-GN, SKM-VL} and APOB (DE in {COLON, KIDNEY, LUNG}), both confidently associated with hypercholesterolemia; SLC6A8 (DE in {HEART, LIVER, LUNG}), associated with creatine transporter deficiency; FOXP3 (DE in {HEART, SPLEEN}, associated with immune dysregulation; and BRCA2 (DE in ADRNL), associated with breast neoplasia. The gene discussed is LDLR; the disease is familial hypercholesterolemia.