JAK1, Janus kinase 1, 3716

N. diseases: 239; N. variants: 41
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.090 None 0.889 9 2011 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.050 None 1.000 5 2008 2017
CUI: C0009812
Disease: Constitutional Symptom
Constitutional Symptom
phenotype Sign or Symptom 30 1 0.030 None 1.000 3 2013 2020
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 2 4 2016 2019
Myelofibrosis due to another disorder
disease Disease or Syndrome 23 6 0.020 None 1.000 2 2017 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2013 2017
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.010 None 1.000 1 2018 2018
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 2 2016 2016
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0302180
Disease: Condyloma
Condyloma
disease Disease or Syndrome 40 0.010 None 1.000 1 2001 2001
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement
phenotype Laboratory Procedure 21 75 0.100 None 1.000 1 1 2013 2013
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2015 2015
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
Metastasis from malignant tumor of prostate
disease Neoplastic Process 342 18 0.010 None 1.000 1 2014 2014
Activated B-cell type diffuse large B-cell lymphoma
disease Neoplastic Process 39 2 0.010 None 1.000 1 2017 2017
CUI: C1443016
Disease: Estradiol level result
Estradiol level result
phenotype Laboratory or Test Result 21 75 0.100 None 1.000 1 1 2013 2013
CUI: C2347750
Disease: Adult Grade II Meningioma
Adult Grade II Meningioma
disease Neoplastic Process 3 0.010 None 1.000 1 2010 2010
CUI: C2347759
Disease: Childhood Grade II Meningioma
Childhood Grade II Meningioma
disease Neoplastic Process 3 0.010 None 1.000 1 2010 2010
CUI: C2826025
Disease: Mixed phenotype acute leukemia
Mixed phenotype acute leukemia
disease Neoplastic Process 37 0.010 None 1.000 1 2017 2017
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C3495798
Disease: Periodontal inflammation
Periodontal inflammation
disease Disease or Syndrome 82 2 0.010 None 1.000 1 2018 2018
Nonnuclear polymorphic congenital cataract
disease Congenital Abnormality 71 0.010 None 1.000 1 2015 2015
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2019 2019