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: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 12 0.800 None 1.000 29 12 2007 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.310 None 1.000 3 2012 2013
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 0.310 None 1.000 2 2011 2013
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 144 0.300 None 1.000 1 2011 2011
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.300 strong 0
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.200 None 1.000 10 2007 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.140 None 1.000 4 2010 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.140 None 1.000 4 2017 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.130 None 1.000 3 2014 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.120 None 1.000 2 2016 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.120 None 1.000 2 2016 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 14 2003 2018
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 8 0.100 None 1.000 14 2006 2017
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.100 None 0.929 14 2007 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 6 2 2008 2016
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 2 1 2019 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype Finding 74 5 0.100 None 0
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		phenotype Finding 14 4 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: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		phenotype Finding 28 3 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0