Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
0.300 Biomarker phenotype CTD_human We describe a patient with pulmonary fibrosis and emphysema with pulmonary hypertension, associated with compound heterozygous mutations of the ABCA3 gene. 26780485 2016