[Mutations in carbonic anhydrase II gene lead to osteopetrosis, RTA (pRTA, distal RTA or combined proximal and distal RTA), cerebral calcification, and mental retardation.]. 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