Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.310 GeneticVariation group BEFREE Introduction of mutation in HPS1, which causes an early-onset form of intractable pulmonary fibrosis, led to accumulation of extracellular matrix and mesenchymal cells, suggesting the potential use of this model to recapitulate fibrotic lung disease in vitro. 28436965 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.310 Biomarker group GENOMICS_ENGLAND Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 8896559 1996