JAK2, Janus kinase 2, 3717

N. diseases: 12; N. variants: 8
Source: CLINVAR ×
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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 5 6 1.000 None 0.968 3 1 2005 2020
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 2 2 1.000 None 0.975 0 1 2005 2020
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 27 141 0.800 None 0.945 11 2 2005 2019
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.700 None 0.944 6 1 2006 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 5 7 0.500 None 0.975 4 4 2005 2020
CUI: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 3 0.500 None 0.947 0 1 2005 2019
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 9 0.460 None 0.833 0 1 1999 2016
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3 		disease Disease or Syndrome 1 1 0.400 None 1.000 0 1 2005 2012
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 6 12 0.100 None 1.000 4 3 2008 2012
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 19 0.100 None 0 1
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