[Mutations in the genes encoding for type V collagen have been found in the classical type of Ehlers-Danlos syndrome (EDS); the most common mutations lead to a non-functional COL5A1 allele.]. 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