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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0 1
CUI: C0011071
Disease: Sudden death
Sudden death 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 30 3 0.100 None 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 38 19 0.100 None 0 1
CUI: C0013132
Disease: Drooling
Drooling 		phenotype Stomatognathic Diseases Finding 95 14 0.100 None 0 1
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.570 disputed 1.000 10 1 1993 2019
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 60 52 0.010 None 1.000 1 1 1995 1995
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 32 9 1.000 strong 0.969 32 8 2004 2019
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 0.200 None 0.962 26 8 2004 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.380 None 1.000 9 1 2004 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.450 None 1.000 6 2 2004 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.300 None 1.000 1 2004 2004
CUI: C0271710
Disease: Reactive hypoglycemia
Reactive hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 23 0.300 None 1.000 1 2004 2004
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.300 None 1.000 1 2004 2004
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.300 None 1.000 1 2004 2004
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 39 1 0.300 None 1.000 1 2004 2004
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		disease Immune System Diseases Disease or Syndrome 21 0.300 None 1.000 1 2004 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.330 None 1.000 4 2006 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.020 None 1.000 2 2006 2018
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.010 None 1.000 1 2006 2006
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.010 None 1.000 1 2006 2006
CUI: C2678478
Disease: Brugada Syndrome 3
Brugada Syndrome 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 2 0.700 None 1.000 5 2 2007 2018
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.410 strong 1.000 2 2007 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.700 None 0.800 76 13 2008 2020
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.310 None 1.000 5 2008 2019
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.300 None 1.000 4 2008 2019