JAK1, Janus kinase 1, 3716

N. diseases: 239; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.020 GeneticVariation disease BEFREE Although sequencing efforts have uncovered transforming JAK1 mutations in acute leukaemia, they have also identified non-transforming JAK1 mutations. 20868368 2010
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.020 GeneticVariation disease BEFREE Overall, we found six JAK1 mutations (four in acute leukemias, one in a lung carcinoma, and one in a breast carcinoma) and three JAK3 mutations (two in breast carcinomas and one in a gastric carcinoma). 18559588 2008