Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.020 Biomarker group BEFREE CARD9 deficiency causes a rare primary immunodeficiency (PID) characterized by superficial and deep fungal infections. 29307770 2018
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.020 GeneticVariation group BEFREE Caspase recruitment domain-containing protein 9 (CARD9) deficiency is an autosomal recessive primary immunodeficiency conferring human susceptibility to invasive fungal disease, including spontaneous central nervous system candidiasis (sCNSc). 26521038 2016