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: C0333319
Disease: Involucrum
Involucrum 		disease Acquired Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C1868414
Disease: HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO
HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3854611
Disease: Anticipatory nausea
Anticipatory nausea 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2017 2017
CUI: C1387528
Disease: Acute haemolytic anaemia
Acute haemolytic anaemia 		disease Disease or Syndrome 3 0.010 None < 0.001 1 2015 2015
CUI: C0151620
Disease: Hypertensive Encephalopathy
Hypertensive Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 4 0.200 None 1.000 1 2010 2010
CUI: C0264802
Disease: Dilated cardiomyopathy secondary to metabolic disorder
Dilated cardiomyopathy secondary to metabolic disorder 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2008 2008
CUI: C1323099
Disease: sympathomimetic disorder
sympathomimetic disorder 		disease Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C2047520
Disease: Mixed hyperlipidemia (disorder)
Mixed hyperlipidemia (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2017 2017
CUI: C3827253
Disease: Classical Glioblastoma
Classical Glioblastoma 		disease Neoplastic Process 6 2 0.010 None 1.000 1 2017 2017
CUI: C2936846
Disease: Scarring alopecia
Scarring alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C2747802
Disease: Bile acid malabsorption
Bile acid malabsorption 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2006 2006
CUI: C0205822
Disease: Hibernoma
Hibernoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2010 2010
CUI: C0581384
Disease: Chronic anemia
Chronic anemia 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2015 2015
CUI: C1281300
Disease: Vascular degeneration
Vascular degeneration 		disease Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2019 2019
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.300 None 1.000 1 2004 2004
CUI: C0023645
Disease: Lichen planus follicularis
Lichen planus follicularis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C0154246
Disease: Urea Cycle Disorders, Inborn
Urea Cycle Disorders, Inborn 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2015 2015
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 15 0.010 None 1.000 1 2015 2015
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia 		disease Respiratory Tract Diseases Disease or Syndrome 14 0.010 None 1.000 1 2018 2018
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 118 0.010 None 1.000 1 2018 2018
CUI: C0396060
Disease: Congenital laryngeal adductor palsy
Congenital laryngeal adductor palsy 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 17 0.010 None 1.000 1 2017 2017
CUI: C0948908
Disease: Nephrotoxic serum nephritis
Nephrotoxic serum nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 17 1 0.010 None 1.000 1 2018 2018
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia 		disease Disease or Syndrome 17 4 0.010 None 1.000 1 2005 2005
CUI: C0334409
Disease: Leydig cell tumor, benign
Leydig cell tumor, benign 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 18 0.010 None 1.000 1 2019 2019
CUI: C1706412
Disease: Lipidemias
Lipidemias 		phenotype Nutritional and Metabolic Diseases Finding 18 0.300 None 1.000 1 2011 2011