JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Chronic Neutrophilic Leukemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023481
Disease:
Chronic Neutrophilic Leukemia 		0.040 GeneticVariation BEFREE Here, we report a case of CNL with presence of the JAK2 V617F mutation. 23391844 2013
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023481
Disease:
Chronic Neutrophilic Leukemia 		0.040 GeneticVariation BEFREE Furthermore, JAK2 V617F-positive CNL may contain an aggressive disease entity in contrast to previous reports. 17109389 2007
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023481
Disease:
Chronic Neutrophilic Leukemia 		0.040 GeneticVariation BEFREE Here we report the presence of the V617F mutation in a CNL patient, who is unusual for having survived for more than 96 months, with little disease progression. 16330446 2005
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023481
Disease:
Chronic Neutrophilic Leukemia 		0.040 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