JAK1, Janus kinase 1, 3716

N. diseases: 116; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.020 GeneticVariation disease BEFREE This mutation was identical to the JAK1 V658F mutation previously found in human APL and acute lymphoblastic leukemia samples. 21436584 2011
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.020 GeneticVariation disease BEFREE They performed whole genome sequencing and copy number analysis of a well-characterized APL mouse model to uncover somatic mutations in Jak1 and lysine (K)-specific demethylase 6A (Kdm6a, also known as Utx) in mice with APL and validated the ability of Jak1 mutations to cooperate with PML-RARA in APL. 21436577 2011