FOXP3, forkhead box P3, 50943

N. diseases: 688; N. variants: 27
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: C1844663
Disease: ISLETS OF LANGERHANS, ABSENCE OF
ISLETS OF LANGERHANS, ABSENCE OF
phenotype Finding 1 0.200 None 1.000 3 1991 2009
CUI: C0341248
Disease: Chronic duodenitis
Chronic duodenitis
disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
Anti-liver cytosolic antigen type 1 antibody positivity
phenotype Laboratory or Test Result 1 0.100 None 0
CUI: C4476964
Disease: Decreased prealbumin level
Decreased prealbumin level
phenotype Finding 1 0.100 None 0
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
phenotype Finding 1 0.100 None 0
CUI: C0162853
Disease: Pityriasis Lichenoides
Pityriasis Lichenoides
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C0231529
Disease: Tenalgia
Tenalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 2 0.010 None 1.000 1 2018 2018
Post-inflammatory hyperpigmentation in lichen planus
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1868496
Disease: Crusting erythematous dermatitis
Crusting erythematous dermatitis
disease Disease or Syndrome 2 0.100 None 0
Insulin receptor antibody positivity
phenotype Laboratory or Test Result 2 0.100 None 0
CUI: C0266836
Disease: Infantile Colic
Infantile Colic
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Sign or Symptom 3 0.020 None 1.000 2 2018 2018
CUI: C0281373
Disease: Respiratory papilloma
Respiratory papilloma
disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2012 2012
CUI: C4476622
Disease: Dependency on intravenous nutrition
Dependency on intravenous nutrition
phenotype Finding 3 0.100 None 0
Anti-thyroid peroxidase antibody positivity
phenotype Laboratory or Test Result 3 0.100 None 0
CUI: C0341305
Disease: Autoimmune enteropathy
Autoimmune enteropathy
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 4 0.040 None 1.000 4 2007 2010
Interleukin 2 Receptor, Alpha, Deficiency of
disease Immune System Diseases Disease or Syndrome 4 5 0.010 None 1.000 1 2007 2007
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 4 1 0.010 None 1.000 1 2017 2017
CUI: C0013298
Disease: Duodenitis
Duodenitis
disease Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0031903
Disease: Pigeon Breeder's Lung
Pigeon Breeder's Lung
disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C3808828
Disease: Recurrent gastroenteritis
Recurrent gastroenteritis
phenotype Finding 5 0.100 None 0
CUI: C0235369
Disease: Granulomatous hepatitis
Granulomatous hepatitis
disease Digestive System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2013 2013
CUI: C0860168
Disease: Distal colitis
Distal colitis
disease Digestive System Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2018 2018
CUI: C1334240
Disease: Intracranial Germinoma
Intracranial Germinoma
disease Neoplastic Process 6 0.010 None 1.000 1 2018 2018
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
disease Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency
disease Immune System Diseases Disease or Syndrome 6 7 0.010 None 1.000 1 2014 2014