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.
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
disease Endocrine System Diseases Disease or Syndrome 16 5 0.820 < 0.001 8 5 1988 2012
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.810 1.000 4 1 2001 2012
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease Endocrine System Diseases Disease or Syndrome 36 26 0.300 strong 3 2004 2006
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 87 112 0.300 1 2008 2008
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 106 106 0.300 1 2008 2008
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.300 1.000 1 2007 2007
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 423 323 0.300 1 2008 2008
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.300 1.000 1 2007 2007
CUI: C1833054
Disease: Hypocortisolemia
Hypocortisolemia
phenotype Finding 13 0.100 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures
disease Disease or Syndrome 11 0.100 0
CUI: C0342491
Disease: Small adrenal gland
Small adrenal gland
phenotype Finding 11 0.100 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia
phenotype Finding 11 0.100 0
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 29 0.100 0
Adrenocorticotropin deficient adrenal insufficiency
disease Disease or Syndrome 5 0.100 0
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice
phenotype Finding 24 0.100 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia
disease Disease or Syndrome 28 3 0.100 0
CUI: C0022353
Disease: Neonatal Jaundice
Neonatal Jaundice
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 34 0.100 0
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 88 0.100 0
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 42 1 0.100 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 329 33 0.100 0
Decreased circulating cortisol level
phenotype Finding 13 0.100 0
CUI: C1844831
Disease: Cleft Palate with Ankyloglossia
Cleft Palate with Ankyloglossia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 5 0.010 1.000 1 2003 2003
CUI: C0342410
Disease: Autoimmune Hypophysitis
Autoimmune Hypophysitis
disease Endocrine System Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 3 0.010 1.000 1 2012 2012
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
disease Immune System Diseases Disease or Syndrome 151 50 0.010 < 0.001 1 2012 2012
Pituitary-dependent Cushing's disease
disease Endocrine System Diseases; Nervous System Diseases Disease or Syndrome 55 7 0.010 1.000 1 2007 2007