The genes contributing to these GO pathways in the DILGOM sample were ATP-binding cassette, sub-family G, member 1 (ABCG1), caveolin 1 (CAV1), Niemann-Pick disease, type C1 (NPC1), and Niemann-Pick disease, type C1, gene-like 1 (NPC1L1), while in the experimental SR study they were ABCA1 and NPC1. The gene discussed is NPC1; the disease is Niemann-Pick disease.