| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.900 | CausalMutation | CLINVAR | |||||||||
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T | 0.900 | CausalMutation | CLINVAR | |||||||||
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C | 0.810 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.750 | CausalMutation | CLINVAR | |||||||||
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T | 0.710 | GeneticVariation | CLINVAR | |||||||||
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T | 0.710 | CausalMutation | CLINVAR | |||||||||
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TT | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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0.900 | GeneticVariation | BEFREE | Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might not carry treatment-relevant information. | 16197451 | 2005 | |||||||
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0.900 | GeneticVariation | BEFREE | Similarly, in patients with PV, homozygous as compared with heterozygous JAK2(V617F) correlated with higher levels of PRV-1 expression (P = 0.11). | 16197445 | 2005 | |||||||
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0.900 | GeneticVariation | BEFREE | V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). | 15920007 | 2005 | |||||||
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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 | |||||||
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0.900 | GeneticVariation | BEFREE | Expression of the JAK2 V617F mutant renders Ba/F3 cells hypersensitive to insulin-like growth factor 1 (IGF1), which is a hallmark of PV erythroid progenitors. | 16239216 | 2005 | |||||||
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0.900 | GeneticVariation | BEFREE | Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1, and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was down-regulated in these patients. | 16081684 | 2005 | |||||||
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0.900 | GeneticVariation | BEFREE | A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients. | 16210033 | 2005 | |||||||
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0.900 | GeneticVariation | BEFREE | Recently, a unique and clonal mutation in the JAK homology 2 (JH2) domain of JAK2 that results in a valine to phenylalanine substitution at position 617 (V617F) was found in the majority of PV patients. | 16210035 | 2005 | |||||||
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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 | |||||||
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0.900 | GeneticVariation | BEFREE | JAK2 sequencing revealed a unique mutation in the JH2 domain leading to a V617F substitution in more than 80% of the PV samples. | 16304380 | 2005 | |||||||
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0.900 | GeneticVariation | BEFREE | Therefore, by necessity, any discussion of PV must take into consideration these companion myeloproliferative disorders, and since erythrocytosis is the single clinical feature that sets PV apart from IMF and ET, it is clear that the presence of the JAK2 V617F</span> mutation cannot by itself establish a diagnosis of PV. | 16210034 | 2005 | |||||||
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0.900 | GeneticVariation | BEFREE | Our results suggest that JAK2 V617F-positive essential thrombocythaemia and polycythaemia vera form a biological continuum, with the degree of erythrocytosis determined by physiological or genetic modifiers. | 16325696 | 2005 |