JAK1, Janus kinase 1, 3716

N. diseases: 239; N. variants: 41
Disease: Primary immune deficiency disorder ×
Source: ALL
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 We recently identified germline loss of function mutations in Janus Associated Kinase 1 (<i>JAK1)</i> causing primary immunodeficiency characterized by infections and associated with early onset, fatal high-grade bladder carcinoma. 31552026 2019