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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.050 None 1.000 5 2017 2019
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 2008 2008
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2017 2017
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.300 None 1.000 1 2013 2013
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.070 None 1.000 7 1 2006 2015
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.140 None 1.000 4 2011 2020
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.030 None 0.667 3 2 2011 2017
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 1 2010 2010
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 18 8 0.010 None 1.000 1 2013 2013
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.800 None 0.984 370 8 2005 2020
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.500 None 1.000 45 2 2006 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 1.000 19 2011 2020
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.200 None 0.842 19 1 2006 2017
CUI: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.500 None 0.947 19 2 2005 2019
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 24 4 0.700 None 0.944 18 1 2006 2017
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 23 4 0.600 None 0.938 16 1 2006 2017
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.200 None 0.846 13 1 2006 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.500 None 1.000 12 3 2008 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.390 None 1.000 11 1 2009 2018
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 50 7 0.100 None 1.000 11 3 2007 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.100 None 1.000 10 2007 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.100 None 1.000 10 1 2007 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.090 None 0.889 9 2 2009 2019