Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3484357
Disease: HERMANSKY-PUDLAK SYNDROME 4
HERMANSKY-PUDLAK SYNDROME 4
0.010 Biomarker disease BEFREE Pulmonary fibrosis is the major cause of morbidity and mortality in HPS-1 and HPS-4 patients. 29427412 2018