rs77375493, INSL6;JAK2

N. diseases: 187
Disease: Idiopathic Hypereosinophilic Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Idiopathic Hypereosinophilic Syndrome
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
0.020 GeneticVariation BEFREE The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. 18024388 2007
Idiopathic Hypereosinophilic Syndrome
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
0.020 GeneticVariation BEFREE Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. 15860661 2005