Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.030 GeneticVariation BEFREE The gain of function mutation JAK2-V617F is very frequently found in myeloproliferative neoplasms (MPNs) and is strongly implicated in pathogenesis of these and other hematological malignancies. 24404189

2014

dbSNP: rs77375493
rs77375493
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.030 GeneticVariation BEFREE The discovery of the highly prevalent activating JAK (Janus kinase) 2 V617F mutation in myeloproliferative neoplasms, and of other pseudokinase domain-activating mutations in JAK2, JAK1 and JAK3 in blood cancers, prompted great interest in understanding how pseudokinase domains regulate kinase domains in JAKs. 23863177

2013

dbSNP: rs77375493
rs77375493
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.030 GeneticVariation BEFREE Although the Jak2-V617F mutation has generated strong awareness because of its causative role in myeloproliferative disorders, reports of Jak2 gene aberrations linked to hematologic malignancies have preceded those of V617F by nearly a decade. 19216843

2009