. . . . . . . "[The vascular disorder Hereditary Hemorrhagic Telangiectasia (HHT) is in general an inherited disease caused by mutations in the TGF-?/BMP receptors endoglin or ALK1 or in rare cases by mutations of the TGF-? signal transducer protein Smad4 leading to the combined syndrome of juvenile polyposis and HHT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:12:18+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .