Disease: Congenital pulmonary arteriovenous malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241790
Disease: Congenital pulmonary arteriovenous malformation
Congenital pulmonary arteriovenous malformation 		0.010 GeneticVariation disease BEFREE Here we show that human polymorphic variants of PTPN14 within the orthologous TGFBM2 locus influence clinical severity of HHT, [corrected] as assessed by development of pulmonary arteriovenous malformation. 22233626 2012