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 Vera
CUI: C0032463
Disease: Polycythemia Vera
0.900 CausalMutation CLINVAR
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.900 CausalMutation CLINVAR
THROMBOCYTHEMIA 3
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
0.800 CausalMutation CLINVAR
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.800 CausalMutation CLINVAR
THROMBOCYTHEMIA 3
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
0.800 CausalMutation CLINVAR
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
0.800 CausalMutation CLINVAR
Polycythemia
CUI: C0032461
Disease: Polycythemia
0.750 CausalMutation CLINVAR
Erythrocytosis familial, 1
CUI: C4551637
Disease: Erythrocytosis familial, 1
0.710 GeneticVariation CLINVAR
Erythrocytosis familial, 1
CUI: C4551637
Disease: Erythrocytosis familial, 1
0.710 CausalMutation CLINVAR
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
0.700 GeneticVariation CLINVAR
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
CUI: C2675105
Disease: BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
0.700 SusceptibilityMutation CLINVAR
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.900 GeneticVariation UNIPROT A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101 2005
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.900 GeneticVariation BEFREE A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101 2005
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
0.800 GeneticVariation BEFREE Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders. 15781101 2005
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.800 GeneticVariation BEFREE A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101 2005
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
0.800 GeneticVariation CLINVAR Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders. 15781101 2005
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.900 GeneticVariation UNIPROT A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 15793561 2005
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.900 GeneticVariation BEFREE The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93). 15858187 2005
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.900 GeneticVariation UNIPROT A gain-of-function mutation of JAK2 in myeloproliferative disorders. 15858187 2005
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.800 GeneticVariation BEFREE The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93). 15858187 2005
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93). 15858187 2005
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.800 GeneticVariation BEFREE Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. 15860661 2005
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
0.800 GeneticVariation BEFREE The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. 15860661 2005
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders. 15860661 2005
Myelofibrosis
CUI: C0026987
Disease: Myelofibrosis
0.100 GeneticVariation BEFREE Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. 15860661 2005