Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.400 Biomarker disease GENOMICS_ENGLAND Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 26744459 2016
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.400 Biomarker disease HPO