Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction
0.020 GeneticVariation disease BEFREE ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. 29505158 2018
CUI: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction
0.020 GeneticVariation disease BEFREE Among the few molecularly defined entities, mutations in the gene encoding the ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) lipid transporter represent the main cause of inherited surfactant dysfunction disorders, a subgroup of ILD. 27177387 2016