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: 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 0.010 None 1.000 1 1 2000 2000
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 62 0.010 None 1.000 1 2007 2007
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 0.040 None 1.000 4 2000 2005
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.520 None 1.000 4 2004 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.210 None 0.500 2 1 2009 2015
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.010 None 1.000 1 1 2013 2013
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction 		phenotype Endocrine System Diseases Disease or Syndrome 50 0.010 None 1.000 1 2016 2016
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.010 None 1.000 1 2019 2019
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 2013 2013
CUI: C0008043
Disease: Chiari-Frommel Syndrome
Chiari-Frommel Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.200 None 1.000 1 1990 1990
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2009 2009
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2009 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.200 None 1.000 1 2008 2008
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 2009 2009
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 84 6 0.010 None 1.000 1 1 2017 2017
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 10 0.200 None 1.000 1 1990 1990
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 305 24 0.200 None 1.000 1 2007 2007
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 1.000 1 2007 2007
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2 2010 2010
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.010 None 1.000 1 2010 2010
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy 		disease Nervous System Diseases Disease or Syndrome 115 0.200 None 1.000 1 2003 2003
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 2000 2000
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2010 2010
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.010 None 1.000 1 1 2011 2011
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.010 None 1.000 1 1 2013 2013