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: C0580454
Disease: Serum testosterone level abnormal
Serum testosterone level abnormal 		phenotype Finding 1 0.100 None 0
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: 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: 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: C4023068
Disease: Increased urinary cortisol level
Increased urinary cortisol level 		phenotype Nutritional and Metabolic Diseases Finding 8 0.100 None 0
CUI: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level 		phenotype Finding 12 0.100 None 0
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 84 6 0.200 None 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 88 17 0.100 None 0
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome 33 0.100 None 0
CUI: C4016112
Disease: GLUCOCORTICOID RESISTANCE, CELLULAR
GLUCOCORTICOID RESISTANCE, CELLULAR 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4025651
Disease: Increased circulating cortisol level
Increased circulating cortisol level 		phenotype Finding 11 0.100 None 0
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.100 None 0
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.100 None 0
CUI: C0857899
Disease: Decreased circulating aldosterone level
Decreased circulating aldosterone level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 0.100 None 0
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease Male Urogenital Diseases Disease or Syndrome 217 72 0.100 None 0
CUI: C0021359
Disease: Infertility
Infertility 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 130 5 0.100 None 0
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.100 None 0
CUI: C0242966
Disease: Systemic Inflammatory Response Syndrome
Systemic Inflammatory Response Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 185 9 0.010 None < 0.001 1 2018 2018
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		group Musculoskeletal Diseases Disease or Syndrome 82 2 0.010 None < 0.001 1 2018 2018
CUI: C0730314
Disease: Chronic central serous chorioretinopathy
Chronic central serous chorioretinopathy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 13 5 0.010 None < 0.001 1 2 2017 2017
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: C0751356
Disease: Idiopathic Inflammatory Myopathies
Idiopathic Inflammatory Myopathies 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 106 4 0.010 None < 0.001 1 2007 2007
CUI: C2895206
Disease: Autoimmune disease (systemic) NOS
Autoimmune disease (systemic) NOS 		disease Disease or Syndrome 37 3 0.010 None < 0.001 1 2 2018 2018