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: C0575157
Disease: Deformity of spine
Deformity of spine
disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2001 2001
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 2019 2019
Malformations of Cortical Development, Group II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.010 None 1.000 1 2017 2017
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.030 None 1.000 3 2017 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.020 None 1.000 2 2014 2019
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.110 None 1.000 2 1 2002 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.110 None 1.000 2 2 2013 2016
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 10 6 0.020 None 1.000 2 2009 2011
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 1.000 1 1 2017 2017
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2019 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2017 2017
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections
group Infections Disease or Syndrome 462 26 0.010 None 1.000 1 2020 2020
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.010 None 1.000 1 2002 2002
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.010 None 1.000 1 2016 2016
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.010 None 1.000 1 2010 2010
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2008 2008
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis
group Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2003 2003
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None 1.000 1 2010 2010
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 1 2009 2009
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.010 None 1.000 1 2009 2009
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2008 2008
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.010 None 1.000 1 2006 2006
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2016 2016