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: 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 0.800 None 0.976 208 55 1980 2020
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 0.500 None 0.983 230 18 1983 2020
CUI: C0342467
Disease: Late onset congenital adrenal hyperplasia
Late onset 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 4 1 0.330 None 1.000 3 1 2008 2018
CUI: C1859995
Disease: Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 strong 0
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome 33 0.130 None 0.667 3 1990 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.120 None 1.000 5 15 1990 2015
CUI: C0302280
Disease: Adrenogenital Syndrome
Adrenogenital Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 0.110 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None < 0.001 1 1 2010 2010
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease Digestive System Diseases Disease or Syndrome 122 34 0.100 None 0.989 181 18 1986 2020
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		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 54 26 0.100 None 0.970 165 17 1980 2020
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.100 None 0.959 146 20 1980 2020
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.100 None 1.000 11 29 2010 2018
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 0.100 None 1.000 11 1 1997 2020
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 9 1 1998 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 9 2 1998 2015
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 4 4 2012 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 3 5 2017 2019
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		disease Eye Diseases Disease or Syndrome 49 69 0.100 None 1.000 3 5 2012 2016
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 4 0.100 None 1.000 3 4 2000 2014
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		disease Eye Diseases Disease or Syndrome 158 109 0.100 None 1.000 3 5 2012 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 1.000 3 46 2007 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 3 4 2017 2018
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 41 54 0.100 None 1.000 2 2 2016 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.100 None 1.000 2 12 2007 2010
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 413 787 0.100 None 1.000 2 2 2012 2016