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: C1829742
Disease: Fatty acid oxidation defects
Fatty acid oxidation defects 		group Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1512694
Disease: Increased Cellularity Present
Increased Cellularity Present 		disease Neoplastic Process 21 0.010 None 1.000 1 2018 2018
CUI: C0279748
Disease: Undifferentiated carcinoma of nasopharynx
Undifferentiated carcinoma of nasopharynx 		disease Neoplastic Process 23 0.020 None 1.000 2 2018 2019
CUI: C0001349
Disease: Acute-Phase Reaction
Acute-Phase Reaction 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.200 None 1.000 1 2007 2007
CUI: C0282548
Disease: Leukostasis
Leukostasis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 0.010 None 1.000 1 2020 2020
CUI: C2718067
Disease: Alcoholic Steatohepatitis
Alcoholic Steatohepatitis 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 30 0.010 None 1.000 1 2019 2019
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 31 7 0.010 None 1.000 1 2019 2019
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 33 4 0.010 None 1.000 1 2019 2019
CUI: C0521991
Disease: Symptoms of stress
Symptoms of stress 		phenotype Sign or Symptom 33 5 0.010 None 1.000 1 2017 2017
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 0.010 None 1.000 1 2019 2019
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 48 1 0.010 None 1.000 1 2009 2009
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		disease Eye Diseases Disease or Syndrome 63 5 0.010 None 1.000 1 2009 2009
CUI: C4551463
Disease: Colon adenoma
Colon adenoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 63 1 0.010 None 1.000 1 2014 2014
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome 		disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 67 6 0.010 None < 0.001 1 2015 2015
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 88 11 0.300 None 1.000 1 2010 2010
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 93 21 0.010 None 1.000 1 2006 2006
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.010 None 1.000 1 2012 2012
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary 		group Cardiovascular Diseases Disease or Syndrome 101 0.300 None 1.000 1 2010 2010
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.010 None 1.000 1 2017 2017
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		group Cardiovascular Diseases Disease or Syndrome 108 1 0.300 None 1.000 1 2010 2010
CUI: C0022638
Disease: Ketosis
Ketosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 119 11 0.010 None 1.000 1 2019 2019
CUI: C0043094
Disease: Weight Gain
Weight Gain 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2010 2010
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.010 None 1.000 1 2014 2014
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2009 2009
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.010 None 1.000 1 2014 2014