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: C0233532
Disease: Maladaptive behavior associated with physical illness
Maladaptive behavior associated with physical illness 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 26 0.010 None 1.000 1 2009 2009
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2014 2014
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder 		phenotype Digestive System Diseases Disease or Syndrome 346 0.010 None 1.000 1 2018 2018
CUI: C0027125
Disease: Myotonia
Myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 19 7 0.400 limited 0
CUI: C0030252
Disease: Palpitations
Palpitations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding 70 7 0.100 None 0
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.100 None 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype Finding 30 0.100 None 0
CUI: C1864570
Disease: Insulin insensitivity
Insulin insensitivity 		phenotype Finding 2 0.100 None 0
CUI: C1864573
Disease: Iridescent posterior subcapsular cataract
Iridescent posterior subcapsular cataract 		phenotype Finding 1 0.100 None 0
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		phenotype Finding 14 2 0.100 None 0
CUI: C1864584
Disease: Frontal balding
Frontal balding 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 4 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		phenotype Finding 64 0.100 None 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		phenotype Finding 26 0.100 None 0
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 21 0.600 None 0.978 46 1 2002 2018
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.400 None 0.941 17 2001 2016
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0.929 14 2005 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.100 None 1.000 11 2011 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.100 None 1.000 10 2005 2019
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 0.060 None 1.000 6 2004 2017
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.060 None 1.000 6 2002 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.060 None 1.000 6 2008 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.050 None 1.000 5 2009 2016