AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
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: C1855868
Disease: Polyglandular Deficiency Syndrome, Persian-Jewish Type
Polyglandular Deficiency Syndrome, Persian-Jewish Type 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.500 None 1.000 5 2002 2007
CUI: C1855869
Disease: Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1 1 0.600 None 1.000 5 1 2002 2007
CUI: C0272404
Disease: Hyposplenism
Hyposplenism 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C2749602
Disease: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1 2 0.400 None 0 2
CUI: C0276223
Disease: Recurrent herpes simplex
Recurrent herpes simplex 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2007 2007
CUI: C4329260
Disease: Acquired Hypoparathyroidism
Acquired Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C0271865
Disease: Autoimmune hypoparathyroidism
Autoimmune hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1998 1998
CUI: C1840334
Disease: Hypoparathyroidism, Autosomal Recessive
Hypoparathyroidism, Autosomal Recessive 		disease Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0857069
Disease: Chronic candidiasis
Chronic candidiasis 		disease Infections Disease or Syndrome 4 2 0.020 None 1.000 2 2006 2010
CUI: C0729198
Disease: Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level 		phenotype Finding 4 0.100 None 0
CUI: C4316913
Disease: Autoimmune Polyglandular Syndrome
Autoimmune Polyglandular Syndrome 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.030 None 1.000 3 2008 2018
CUI: C4728035
Disease: CTLA4 deficiency
CTLA4 deficiency 		disease Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C1401084
Disease: Ovarian Insufficiency
Ovarian Insufficiency 		disease Disease or Syndrome 9 0.010 None 1.000 1 1998 1998
CUI: C1535942
Disease: Polyglandular Type III Autoimmune Syndrome
Polyglandular Type III Autoimmune Syndrome 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2006 2006
CUI: C3203657
Disease: Autoimmune retinopathy
Autoimmune retinopathy 		disease Eye Diseases; Immune System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2013 2013
CUI: C4025651
Disease: Increased circulating cortisol level
Increased circulating cortisol level 		phenotype Finding 11 0.100 None 0
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 12 5 0.020 None 1.000 2 1 2005 2012
CUI: C0263504
Disease: Alopecia totalis
Alopecia totalis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 13 1 0.010 None < 0.001 1 2002 2002
CUI: C1266166
Disease: Intracortical osteosarcoma
Intracortical osteosarcoma 		disease Neoplastic Process 13 0.010 None 1.000 1 2018 2018
CUI: C0085860
Disease: Autoimmune Syndrome Type II, Polyglandular
Autoimmune Syndrome Type II, Polyglandular 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 14 0.340 None 1.000 5 2006 2016
CUI: C0006848
Disease: Mucocutaneous candidiasis
Mucocutaneous candidiasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.030 None 1.000 3 1998 2011
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2002 2002
CUI: C0857899
Disease: Decreased circulating aldosterone level
Decreased circulating aldosterone level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 18 1 0.600 None 0.988 80 1 1999 2020
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0