Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.310 GermlineCausalMutation disease ORPHANET Germline JAK2 mutation in a family with hereditary thrombocytosis. 22397670 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.310 GeneticVariation disease BEFREE In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. 19843380 2009