JAK1, Janus kinase 1, 3716

N. diseases: 239; N. variants: 41
Disease: Hypereosinophilic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. 28111307 2017