Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
0.410 Biomarker disease GENOMICS_ENGLAND Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 25488983 2014
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
0.410 Biomarker disease BEFREE Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 22351933 2012
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
0.410 Biomarker disease HPO