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: 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: 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: 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: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.450 strong 1.000 5 1 2001 2017
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: C0006840
Disease: Candidiasis
Candidiasis 		disease Infections Disease or Syndrome 95 8 0.400 None 0.833 12 1 2002 2011
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: 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: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.310 None 1.000 2 2015 2018
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: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 508 38 0.300 None 1.000 1 2015 2015
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.300 strong 0
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.220 None 1.000 3 2005 2017
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: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 163 13 0.200 None 1.000 2 2008 2012
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 132 4 0.200 None 1.000 1 2005 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.190 None 1.000 9 7 2011 2019
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: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.180 None 1.000 8 2 2002 2020
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.160 None 1.000 6 2008 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.120 None 1.000 2 2006 2018
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.110 None 1.000 1 2017 2017
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.110 None 1.000 1 2016 2016
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