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: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 2018 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.060 None 1.000 6 1990 2018
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.050 None 1.000 5 1990 2018
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		disease Endocrine System Diseases Disease or Syndrome 126 9 0.040 None 1.000 4 2000 2009
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		disease Endocrine System Diseases Disease or Syndrome 120 9 0.040 None 1.000 4 2000 2009
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 64 24 0.030 None 1.000 3 2002 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2018 2019
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 121 8 0.020 None 1.000 2 2004 2017
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 0.020 None 1.000 2 2005 2013
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.020 None 1.000 2 2018 2019
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 0.010 None 1.000 1 2006 2006
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 0.010 None 1.000 1 2019 2019
CUI: C0013390
Disease: Dysmenorrhea
Dysmenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 71 4 0.010 None 1.000 1 2017 2017
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2018 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2018 2018
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		disease Endocrine System Diseases Disease or Syndrome 279 27 0.010 None 1.000 1 2018 2018
CUI: C0085648
Disease: Synovial Cyst
Synovial Cyst 		disease Neoplasms Disease or Syndrome 87 0.010 None 1.000 1 2012 2012
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2000 2000
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 108 24 0.010 None 1.000 1 2019 2019
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.010 None 1.000 1 2019 2019
CUI: C0342138
Disease: Thyrotoxicosis in pregnancy
Thyrotoxicosis in pregnancy 		disease Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0342495
Disease: Macronodular adrenal hyperplasia
Macronodular adrenal hyperplasia 		phenotype 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 15 0.010 None 1.000 1 2006 2006
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2002 2002
CUI: C1258666
Disease: Myxoid cyst
Myxoid cyst 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 106 0.010 None 1.000 1 2012 2012
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 90 33 0.010 None 1.000 1 2007 2007