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: C0038940
Disease: Surgical Wound Dehiscence
Surgical Wound Dehiscence 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.200 None 1.000 1 2009 2009
CUI: C3888197
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0524912
Disease: Hepatitis, Chronic, Drug-Induced
Hepatitis, Chronic, Drug-Induced 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 2 0.200 None 1.000 1 2006 2006
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 29 0.300 None 1.000 1 2003 2003
CUI: C4302167
Disease: Autoimmune myopathy
Autoimmune myopathy 		disease Immune System Diseases Disease or Syndrome 4 0.040 None 0.750 4 2017 2018
CUI: C0009438
Disease: Common Bile Duct Calculi
Common Bile Duct Calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 4 0.300 None 1.000 1 1980 1980
CUI: C0342467
Disease: Late onset congenital adrenal hyperplasia
Late onset congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2019 2019
CUI: C3715147
Disease: Necrotising myositis
Necrotising myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0270970
Disease: Reducing-body myopathy
Reducing-body myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2019 2019
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection 		disease Infections Disease or Syndrome 6 0.300 None 1.000 1 2006 2006
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.040 None 1.000 4 2016 2019
CUI: C0519066
Disease: Acute Q fever
Acute Q fever 		disease Infections Disease or Syndrome 10 3 0.300 None 1.000 1 2006 2006
CUI: C3267047
Disease: Autoimmune necrotizing myopathy
Autoimmune necrotizing myopathy 		disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 11 0.060 None 1.000 6 2017 2019
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 2001 2001
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 33 0.300 None 1.000 1 2003 2003
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 23 0.300 None 1.000 1 2003 2003
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		disease Infections Disease or Syndrome 22 9 0.300 None 1.000 1 2006 2006
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 72 0.010 None < 0.001 1 1978 1978
CUI: C0238124
Disease: Necrotizing fasciitis
Necrotizing fasciitis 		disease Musculoskeletal Diseases Disease or Syndrome 24 0.010 None 1.000 1 2019 2019
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 16 0.300 None 1.000 1 2003 2003
CUI: C1858723
Disease: Poikiloderma with Neutropenia
Poikiloderma with Neutropenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 25 24 0.010 None 1.000 1 2018 2018
CUI: C0034362
Disease: Q Fever
Q Fever 		disease Infections Disease or Syndrome 26 0.300 None 1.000 1 2006 2006
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 30 96 0.010 None 1.000 1 2017 2017
CUI: C0027814
Disease: Neuritis, Autoimmune, Experimental
Neuritis, Autoimmune, Experimental 		disease Immune System Diseases; Nervous System Diseases Experimental Model of Disease 32 0.200 None 1.000 1 2007 2007
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34 0.060 None 1.000 6 1 1975 2016