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: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.010 None 1.000 1 2018 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.100 None 1.000 1 1 2015 2015
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 77 14 0.010 None 1.000 1 2018 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease 		disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.010 None 1.000 1 1 2006 2006
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2018 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 1 1 2015 2015
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2018 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2012 2012
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 45 78 0.010 None 1.000 1 2005 2005
CUI: C1135191
Disease: Heart Failure, Systolic
Heart Failure, Systolic 		disease Cardiovascular Diseases Disease or Syndrome 49 6 0.010 None 1.000 1 2017 2017
CUI: C3150215
Disease: CHROMOSOME 6q24-q25 DELETION SYNDROME
CHROMOSOME 6q24-q25 DELETION SYNDROME 		disease Disease or Syndrome 2 0.300 strong 1.000 1 2010 2010
CUI: C4509918
Disease: Polyvalvular heart disease syndrome
Polyvalvular heart disease syndrome 		disease Disease or Syndrome 1 0.300 None 1.000 1 2018 2018
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.100 None 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.100 None 0
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 234 19 0.100 None 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 111 29 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 46 1 0.100 None 0 1
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.100 None 0
CUI: C0042025
Disease: Urinary Stress Incontinence
Urinary Stress Incontinence 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.100 None 0 1
CUI: C0340375
Disease: Subaortic stenosis
Subaortic stenosis 		disease Cardiovascular Diseases Disease or Syndrome 19 2 0.100 None 0
CUI: C1838260
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 5
DIABETES MELLITUS, INSULIN-DEPENDENT, 5 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 2 1 0.100 None 0 1