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: C0237932
Disease: emotional trauma
emotional trauma 		disease Behavior and Behavior Mechanisms; Wounds and Injuries Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2019 2019
CUI: C4087263
Disease: Persistent depressive disorder
Persistent depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2019 2019
CUI: C4275153
Disease: Hereditary glucocorticoid resistance
Hereditary glucocorticoid resistance 		disease Disease or Syndrome 1 0.010 None 1.000 1 1997 1997
CUI: C0580454
Disease: Serum testosterone level abnormal
Serum testosterone level abnormal 		phenotype Finding 1 0.100 None 0
CUI: C1841973
Disease: Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.400 None 0 1
CUI: C1841982
Disease: BODY COMPOSITION, BENEFICIAL
BODY COMPOSITION, BENEFICIAL 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 1 0.300 None 0
CUI: C4016112
Disease: GLUCOCORTICOID RESISTANCE, CELLULAR
GLUCOCORTICOID RESISTANCE, CELLULAR 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2930863
Disease: Primary cortisol resistance
Primary cortisol resistance 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 0.020 None 1.000 2 1995 2001
CUI: C0858854
Disease: Unrest
Unrest 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2017 2017
CUI: C0027577
Disease: Nelson Syndrome
Nelson Syndrome 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 4 0.020 None 1.000 2 1996 1997
CUI: C0151467
Disease: Addisonian crisis
Addisonian crisis 		disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0151620
Disease: Hypertensive Encephalopathy
Hypertensive Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0271725
Disease: Iatrogenic Cushing's disease
Iatrogenic Cushing's disease 		disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0750433
Disease: Wound, non-healed
Wound, non-healed 		phenotype Wounds and Injuries Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1864584
Disease: Frontal balding
Frontal balding 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 4 0.100 None 0
CUI: C0036091
Disease: Sialolithiasis
Sialolithiasis 		disease Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0017614
Disease: Glaucoma, Suspect
Glaucoma, Suspect 		disease Eye Diseases Disease or Syndrome 6 0.300 None 1.000 1 2007 2007
CUI: C0332601
Disease: Cushingoid facies
Cushingoid facies 		phenotype Endocrine System Diseases Sign or Symptom 6 1 0.010 None < 0.001 1 2000 2000
CUI: C1956415
Disease: Paroxysmal nocturnal dyspnea
Paroxysmal nocturnal dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2013 2013
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 1 0.300 None 1.000 1 2002 2002
CUI: C4023068
Disease: Increased urinary cortisol level
Increased urinary cortisol level 		phenotype Nutritional and Metabolic Diseases Finding 8 0.100 None 0
CUI: C0278801
Disease: Endometrial neoplasm malignant metastatic
Endometrial neoplasm malignant metastatic 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 9 0.010 None 1.000 1 2017 2017
CUI: C1399930
Disease: Attention deficit-hyperactivity
Attention deficit-hyperactivity 		disease Mental or Behavioral Dysfunction 9 1 0.010 None 1.000 1 2017 2017
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.410 None 1.000 2 2002 2006
CUI: C1457883
Disease: Aggressive reaction
Aggressive reaction 		phenotype Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 10 0.010 None 1.000 1 2018 2018