Disease: Lymphadenopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.110 AlteredExpression phenotype BEFREE Gain-of-function variants in p110δ, the catalytic subunit of phosphatidylinositol 3-kinase (PI3K) expressed in lymphocytes, cause activated PI3-kinase δ syndrome (APDS), a primary immunodeficiency that is characterized by recurrent infections, viremia, lymphadenopathy, and autoimmunity. 31031754 2019
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.110 CausalMutation phenotype CLINVAR
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.110 Biomarker phenotype HPO