Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.800 GeneticVariation LHGDN Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET. 16728702

2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.800 GeneticVariation LHGDN An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation. 16885051

2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.800 Biomarker LHGDN JAK2 V617F mutation analysis in different myeloid lineages (granulocytes, platelets, CFU-MK, BFU-E and CFU-GM) in essential thrombocythemia patients. 16888614

2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.800 GeneticVariation LHGDN Even though this mutation has been predicted to constitutively activate the JAK2 kinase, spontaneous phosphorylation of STAT5 does not seem to be a frequent finding in platelets from ET patients. 16923108

2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.800 GeneticVariation LHGDN X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. 16434490

2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.800 GeneticVariation LHGDN The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). 16926301

2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.800 GeneticVariation LHGDN Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. 15837627

2005