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.
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 1.000 1 1 2019 2019
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: 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
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
CUI: C3501854
Disease: Leukemia, Acute, X-Linked
Leukemia, Acute, X-Linked
disease Neoplasms Neoplastic Process 1 1 0.100 None 1.000 1 1 2009 2009
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
disease Disease or Syndrome 82 132 0.100 None 1.000 1 1 2019 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 1 1 2015 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.090 None 0.889 9 2011 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.070 None 1.000 7 2017 2019
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.070 None 1.000 7 2016 2019
Childhood Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.070 None 1.000 7 2008 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.060 None 1.000 6 2017 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.060 None 1.000 6 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: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.050 None 1.000 5 2012 2019
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease
disease Immune System Diseases Disease or Syndrome 447 25 0.050 None 1.000 5 2017 2019
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.050 None 1.000 5 2008 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.050 None 0.800 5 2014 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.050 None 1.000 5 2011 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.050 None 1.000 5 2012 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 0.800 5 2014 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.050 None 1.000 5 2013 2019