AIRE, autoimmune regulator, 326

N. diseases: 117; N. variants: 59
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.
Polyglandular Type I Autoimmune Syndrome
disease Endocrine System Diseases; Immune System Diseases Disease or Syndrome 39 51 1.000 0.945 161 51 1967 2018
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
disease Endocrine System Diseases; Immune System Diseases Disease or Syndrome 1 19 0.800 26 19 1997 2016
Polyglandular Deficiency Syndrome, Persian-Jewish Type
disease Endocrine System Diseases; Immune System Diseases Disease or Syndrome 1 19 0.700 25 19 1997 2016
Autoimmune polyendocrinopathy syndrome, type 1
disease Endocrine System Diseases; Immune System Diseases Disease or Syndrome 11 1 0.600 0.974 76 1 1999 2017
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
group Endocrine System Diseases; Immune System Diseases Disease or Syndrome 78 7 0.400 1.000 17 1998 2016
CUI: C0006840
Disease: Candidiasis
Candidiasis
disease Bacterial Infections and Mycoses Disease or Syndrome 49 5 0.400 0.833 13 1 2002 2011
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
disease Endocrine System Diseases; Immune System Diseases Disease or Syndrome 1 2 0.400 11 2 1967 2010
Autoimmune Syndrome Type II, Polyglandular
disease Endocrine System Diseases; Immune System Diseases Disease or Syndrome 5 0.320 1.000 3 2007 2013
Polyglandular Type III Autoimmune Syndrome
disease Endocrine System Diseases; Immune System Diseases Disease or Syndrome 1 0.300 1 2007 2007
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 255 4 0.300 1 2015 2015
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 306 23 0.300 1 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease Endocrine System Diseases Disease or Syndrome 36 26 0.300 strong 0
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
disease Eye Diseases; Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 259 29 0.210 1.000 2 2005 2008
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1059 141 0.200 0.963 83 2 1994 2018
CUI: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 72 3 0.200 2 2008 2012
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome
disease Eye Diseases; Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 77 1 0.200 1 2005 2005
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous
disease Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases Disease or Syndrome 23 2 0.190 1.000 9 1998 2017
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.170 0.714 7 1999 2016
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 215 20 0.160 1.000 6 2002 2010
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
disease Endocrine System Diseases Disease or Syndrome 44 2 0.150 1.000 5 1998 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1832 1878 0.130 1.000 3 6 2011 2015
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
disease Digestive System Diseases Disease or Syndrome 126 32 0.110 1.000 1 1 2001 2001
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 242 205 0.110 1.000 1 2008 2008
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen
disease Congenital Abnormality 18 3 0.100 0