IL7R, interleukin 7 receptor, 3575

N. diseases: 231; 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: C4476830
Disease: Psoriasiform lesion
Psoriasiform lesion 		phenotype Finding 1 0.100 None 0
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 14 0.700 None 1.000 10 12 1998 2016
CUI: C0746104
Disease: lung disease granulomatous
lung disease granulomatous 		disease Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C1839305
Disease: Decreased proportion of CD8-positive T cells
Decreased proportion of CD8-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 5 1 0.100 None 0
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 7 12 0.100 None 1.000 2 1 2012 2012
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		phenotype Finding 7 0.100 None 0
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 9 0.100 None 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		phenotype Infections Finding 10 0.100 None 0
CUI: C1272352
Disease: Deficiency of vitamin D3
Deficiency of vitamin D3 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.020 None 1.000 2 2012 2013
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		phenotype Finding 12 1 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		phenotype Finding 13 0.100 None 0
CUI: C4531166
Disease: Decreased lymphocyte proliferation in response to mitogen
Decreased lymphocyte proliferation in response to mitogen 		phenotype Cell or Molecular Dysfunction 13 0.100 None 0
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		phenotype Finding 14 0.100 None 0
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 16 18 0.010 None 1.000 1 2011 2011
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Finding 17 0.100 None 0
CUI: C1839304
Disease: Decreased proportion of CD4-positive T cells
Decreased proportion of CD4-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 19 0.100 None 0
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Congenital Abnormality 21 19 0.010 None 1.000 1 2015 2015
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		disease Disease or Syndrome 22 1 0.010 None 1.000 1 2012 2012
CUI: C4049273
Disease: Systemic immune activation
Systemic immune activation 		disease Disease or Syndrome 23 0.010 None 1.000 1 2012 2012
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 23 0.100 None 0
CUI: C0265987
Disease: Nevus comedonicus
Nevus comedonicus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 6 0.010 None < 0.001 1 2018 2018
CUI: C0276199
Disease: Canarypox (disorder)
Canarypox (disorder) 		disease Disease or Syndrome 32 0.010 None 1.000 1 2008 2008
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		phenotype Infections Finding 32 0.100 None 0
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 35 48 0.530 strong 1.000 3 1 2006 2014
CUI: C0751964
Disease: Multiple Sclerosis, Primary Progressive
Multiple Sclerosis, Primary Progressive 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 37 2 0.010 None 1.000 1 2005 2005