rs77375493, INSL6;JAK2

N. diseases: 187
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polycythemia
CUI: C0032461
Disease: Polycythemia
0.750 GeneticVariation BEFREE These results demonstrate that STAT5a/b is essential for the induction of CML-like leukemia by BCR-ABL1 and of polycythemia by JAK2(V617F), and validate STAT5a/b and the genes they regulate as targets for therapy in these MPNs. 22234689 2012
Polycythemia
CUI: C0032461
Disease: Polycythemia
0.750 GeneticVariation BEFREE The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. 22262773 2012
Polycythemia
CUI: C0032461
Disease: Polycythemia
0.750 GeneticVariation BEFREE The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. 17317861 2007
Polycythemia
CUI: C0032461
Disease: Polycythemia
0.750 GeneticVariation BEFREE This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2(V617F)-positive pathologies. 16670266 2006
Polycythemia
CUI: C0032461
Disease: Polycythemia
0.750 GeneticVariation BEFREE Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. 17183644 2006
Polycythemia
CUI: C0032461
Disease: Polycythemia
0.750 CausalMutation CLINVAR