JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
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 		0.020 GeneticVariation group BEFREE Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as IL2RG, JAK3, IL7RA, RAG1, RAG2, and ADA. 28552805 2017
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.020 GeneticVariation group BEFREE Mutations of Jak3 cause primary immunodeficiency, but Minegishi et al. 17098200 2006