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: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 64 76 1.000 None 0.985 204 75 1991 2020
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 0.980 101 5 1993 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.020 None 1.000 2 1995 2002
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.010 None 1.000 1 1996 1996
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.010 None 1.000 1 1996 1996
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 166 21 0.400 None 1.000 18 1998 2019
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 31 3 0.200 None 1.000 13 1998 2018
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 41 18 0.100 None 0.818 11 1998 2019
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 18 0.100 None 0.818 11 1998 2019
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		group Endocrine System Diseases Disease or Syndrome 74 0.060 None 0.833 6 1998 2011
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: C0275518
Disease: Acute infectious disease
Acute infectious disease 		group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5 0.010 None 1.000 1 1998 1998
CUI: C1401084
Disease: Ovarian Insufficiency
Ovarian Insufficiency 		disease Disease or Syndrome 9 0.010 None 1.000 1 1998 1998
CUI: C4329260
Disease: Acquired Hypoparathyroidism
Acquired Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.010 None 1.000 1 1998 1998
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 1998 1998
CUI: C0747102
Disease: Ovarian failure
Ovarian failure 		disease Endocrine System Diseases Disease or Syndrome 39 1 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: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 1998 1998
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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.190 None 0.778 9 1 1999 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.040 None 1.000 4 1999 2011
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.040 None 1.000 4 1999 2011
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.030 None 1.000 3 2000 2011
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.050 None 0.800 5 1 2001 2009