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: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 179 14 0.400 None 1.000 26 1 2000 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.010 None 1.000 1 2000 2000
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 0.100 None 1.000 33 2006 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.010 None 1.000 1 2006 2006
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 0.050 None 1.000 5 2007 2014
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.210 None 1.000 1 2007 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None 1.000 1 2007 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2007 2007
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 18 1 0.010 None 1.000 1 2007 2007
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.010 None 1.000 1 2008 2008
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		disease Digestive System Diseases Disease or Syndrome 156 62 0.010 None 1.000 1 2008 2008
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 0.010 None 1.000 1 2009 2009
CUI: C0178417
Disease: Anhedonia
Anhedonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 7 0.010 None 1.000 1 2010 2010
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2010 2010
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.010 None 1.000 1 2012 2012
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		group Cardiovascular Diseases Disease or Syndrome 41 11 0.010 None 1.000 1 2012 2012
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2012 2012
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		disease Digestive System Diseases Congenital Abnormality 26 306 0.010 None 1.000 1 2012 2012
CUI: C0027125
Disease: Myotonia
Myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 19 7 0.300 None 1.000 1 2013 2013
CUI: C0751358
Disease: Myotonic Phenomenon
Myotonic Phenomenon 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.300 None 1.000 1 2013 2013
CUI: C0751359
Disease: Percussion Myotonia
Percussion Myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2013 2013
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2014 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2015 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2015 2015
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.010 None 1.000 1 2015 2015