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
0.010 Biomarker group BEFREE Here, we describe a previously unknown human primary immunodeficiency disorder and provide evidence that the endosomal adaptor protein p14, previously characterized as confining mitogen-activated protein kinase (MAPK) signaling to late endosomes, is crucial for the function of neutrophils, B cells, cytotoxic T cells and melanocytes. 17195838 2007