[Pseudoxanthoma elasticum (PXE), a pleiotropic multisystem disorder affecting the skin, eyes, and cardiovascular system, is caused by mutations in the ABCC6/MRP6 expressed primarily in the liver.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE