Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.040 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

dbSNP: rs77375493
rs77375493
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.040 GeneticVariation BEFREE Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. 17183644

2010

dbSNP: rs77375493
rs77375493
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.040 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

dbSNP: rs77375493
rs77375493
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.040 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