Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.030 GeneticVariation BEFREE Accordingly, genetic and pharmacological IGF1R inhibitory strategies prevent the hematological disease found in AIRAPL-deficient mice as well as that in mice carrying the Jak2(V617F) mutation, thereby demonstrating the causal involvement of this pathway in the pathogenesis of myeloproliferative neoplasms. 26692333

2016

dbSNP: rs77375493
rs77375493
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.030 GeneticVariation BEFREE The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia. 16931578

2006

dbSNP: rs77375493
rs77375493
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.030 GeneticVariation BEFREE None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. 16247455

2006