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: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.070 None 1.000 7 2007 2019
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 38 0.130 None 1.000 3 1998 2014
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.020 None 1.000 2 2018 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.020 None 1.000 2 2009 2020
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 0.020 None 1.000 2 2000 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2010 2018
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.020 None 1.000 2 2002 2017
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 67 3 0.020 None 1.000 2 2007 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2018 2018
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2018 2018
CUI: C0221028
Disease: Neonatal thrombocytopenia (disorder)
Neonatal thrombocytopenia (disorder) 		disease Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2014 2014
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2014 2014
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2014 2014
CUI: C0242510
Disease: Drug usage
Drug usage 		phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 21 0.010 None 1.000 1 2018 2018
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.010 None 1.000 1 2014 2014
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.010 None 1.000 1 2018 2018
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 55 9 0.010 None 1.000 1 2016 2016
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 1 0.110 None 1.000 1 2014 2014
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 43 14 0.010 None 1.000 1 2014 2014
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2018 2018
CUI: C4511668
Disease: Prolonged grief disorder
Prolonged grief disorder 		disease Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2020 2020
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2009 2009
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.010 None 1.000 1 2014 2014
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION 		disease Disease or Syndrome 66 2 0.010 None 1.000 1 2019 2019