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: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-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 Disease or Syndrome 10 16 0.010 None 1.000 1 1 2015 2015
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: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 2 4 2009 2010
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.020 None 1.000 2 1993 1999
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 18 0.030 None 1.000 3 1 1992 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.100 None 1.000 1 3 2009 2009
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 1 1998 1998
CUI: C3151153
Disease: ADENOMA, CORTISOL-PRODUCING
ADENOMA, CORTISOL-PRODUCING 		disease Finding 1 1 0.100 None 0 1
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.010 None 1.000 1 2008 2008
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		disease Endocrine System Diseases Disease or Syndrome 52 5 0.010 None < 0.001 1 2011 2011
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.010 None < 0.001 1 2011 2011
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.020 None < 0.001 2 1998 2015
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: 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: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.010 None 1.000 1 1998 1998
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 1 1 2009 2009
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: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 2 4 2009 2010
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 1 2019 2019
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 73 48 0.010 None 1.000 1 2019 2019
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 0.020 None 1.000 2 1992 2000
CUI: C0587178
Disease: Anti-nuclear antibody measurement
Anti-nuclear antibody measurement 		phenotype Laboratory Procedure 3 3 0.100 None 1.000 1 1 2019 2019
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.100 None 1.000 1 1 2019 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2008 2008