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: C3278154
Disease: GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIA 		disease Disease or Syndrome 1 3 0.400 None 1.000 1 3 2016 2016
CUI: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis 		disease Disease or Syndrome 3 0.100 None 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C4025586
Disease: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 		phenotype Finding 3 0.100 None 0
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia 		phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 12 0.010 None 1.000 1 2009 2009
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		phenotype Finding 6 0.100 None 0
CUI: C4725093
Disease: Unresectable Melanoma
Unresectable Melanoma 		disease Neoplasms Neoplastic Process 7 3 0.010 None 1.000 1 2019 2019
CUI: C0334263
Disease: Trichilemmoma
Trichilemmoma 		disease Neoplasms Neoplastic Process 8 4 0.010 None < 0.001 1 2018 2018
CUI: C3160897
Disease: Opioid-Induced Constipation
Opioid-Induced Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2018 2018
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		phenotype Disease or Syndrome 8 0.100 None 0
CUI: C0026718
Disease: Mucormycosis
Mucormycosis 		disease Infections Disease or Syndrome 9 0.020 None 1.000 2 2018 2018
CUI: C0043541
Disease: Zygomycosis
Zygomycosis 		disease Infections Disease or Syndrome 9 0.020 None 1.000 2 2018 2018
CUI: C0541798
Disease: Early Awakening
Early Awakening 		phenotype Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 10 1 0.010 None 1.000 1 2019 2019
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C0238029
Disease: Ependymoma of brain
Ependymoma of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.010 None 1.000 1 2016 2016
CUI: C0264733
Disease: Ventricular dilatation (disorder)
Ventricular dilatation (disorder) 		disease Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2020 2020
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype Laboratory Procedure 13 0.300 limited 1.000 1 2016 2016
CUI: C4505353
Disease: Diverticular Bleeding
Diverticular Bleeding 		disease Digestive System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2018 2018
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		phenotype Finding 14 1 0.100 None 0
CUI: C0278506
Disease: Non-small cell lung cancer stage III
Non-small cell lung cancer stage III 		disease Neoplastic Process 16 1 0.010 None 1.000 1 2019 2019
CUI: C0205788
Disease: Histiocytoid hemangioma
Histiocytoid hemangioma 		disease Neoplasms Neoplastic Process 18 1 0.010 None < 0.001 1 2019 2019
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 18 5 0.010 None 1.000 1 2018 2018