JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3 		disease Disease or Syndrome 1 1 0.400 None 1.000 2 1 2005 2012
CUI: C0002890
Disease: Leukoerythroblastic Anemia
Leukoerythroblastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2006 2006
CUI: C1328061
Disease: Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Myelodysplastic/myeloproliferative neoplasm, unclassifiable 		disease Hemic and Lymphatic Diseases Neoplastic Process 1 1 0.010 None 1.000 1 1 2006 2006
CUI: C1516553
Disease: Prefibrotic/Early Primary Myelofibrosis
Prefibrotic/Early Primary Myelofibrosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 1 1 0.010 None 1.000 1 1 2009 2009
CUI: C4303426
Disease: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 1 1 0.010 None 1.000 1 1 2006 2006
CUI: C2675105
Disease: BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4016234
Disease: ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0003834
Disease: Arterial insufficiency
Arterial insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0025472
Disease: Mesenteric Vascular Occlusion
Mesenteric Vascular Occlusion 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 1 2010 2010
CUI: C0027013
Disease: Myeloid Metaplasia
Myeloid Metaplasia 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1 2005 2005
CUI: C0677060
Disease: essential thrombocytopenia
essential thrombocytopenia 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C4273671
Disease: Inherited predisposition to essential thrombocythemia
Inherited predisposition to essential thrombocythemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C0232370
Disease: Florid red complexion (finding)
Florid red complexion (finding) 		phenotype Finding 3 0.100 None 0
CUI: C1849749
Disease: Peripheral thrombosis
Peripheral thrombosis 		phenotype Pathologic Function 3 0.100 None 0
CUI: C3805232
Disease: Post polycythaemia vera myelofibrosis
Post polycythaemia vera myelofibrosis 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 4 1 0.020 None 1.000 2 1 2011 2015
CUI: C1268964
Disease: Myelodysplastic syndrome, no ICD-O subtype
Myelodysplastic syndrome, no ICD-O subtype 		disease Hemic and Lymphatic Diseases Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C1334665
Disease: Mediastinal Lymphoma
Mediastinal Lymphoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4 0.010 None 1.000 1 2005 2005
CUI: C2347507
Disease: Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		disease Neoplastic Process 4 0.010 None < 0.001 1 2017 2017
CUI: C2827356
Disease: Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 4 0.010 None 1.000 1 2013 2013
CUI: C1853288
Disease: Increased red blood cell mass
Increased red blood cell mass 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C0153426
Disease: Malignant neoplasm of duodenum
Malignant neoplasm of duodenum 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5 1 0.010 None 1.000 1 1 2016 2016
CUI: C0338575
Disease: Sagittal Sinus Thrombosis
Sagittal Sinus Thrombosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1 2017 2017
CUI: C0239574
Disease: Low grade fever
Low grade fever 		phenotype Pathological Conditions, Signs and Symptoms Finding 5 1 0.100 None 0
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 6 1 0.040 None 1.000 4 1 2009 2013
CUI: C0085642
Disease: Livedo Reticularis
Livedo Reticularis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017