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: C0006277
Disease: Bronchitis
Bronchitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 58 4 0.010 None 1.000 1 2016 2016
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
disease Digestive System Diseases Disease or Syndrome 252 90 0.010 None 1.000 1 2011 2011
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 1 2016 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 1 2016 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.010 None 1.000 1 2008 2008
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
disease Digestive System Diseases Disease or Syndrome 203 61 0.010 None 1.000 1 1 2016 2016
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2013 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2016 2016
CUI: C0028960
Disease: Oligospermia
Oligospermia
disease Male Urogenital Diseases Disease or Syndrome 217 72 0.010 None 1.000 1 1 2009 2009
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 51 54 0.010 None 1.000 1 2019 2019
CUI: C0162830
Disease: Dermatitis, Phototoxic
Dermatitis, Phototoxic
disease Skin and Connective Tissue Diseases Disease or Syndrome 89 0.010 None 1.000 1 2013 2013
CUI: C0206750
Disease: Coronavirus Infections
Coronavirus Infections
group Infections Disease or Syndrome 33 0.010 None 1.000 1 2011 2011
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.010 None 1.000 1 1 2007 2007
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 21 25 0.010 None 1.000 1 2019 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 1 2016 2016
Amino Acid Metabolism, Inherited Disorders
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 1998 1998
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 69 0.010 None 1.000 1 2014 2014
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 80 42 0.010 None 1.000 1 2002 2002
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
disease Digestive System Diseases Disease or Syndrome 156 62 0.010 None 1.000 1 2011 2011
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder
group Pathological Conditions, Signs and Symptoms Disease or Syndrome 391 8 0.010 None 1.000 1 2016 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.010 None 1.000 1 2008 2008
CUI: C3826634
Disease: Bronchitis in children
Bronchitis in children
disease Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C3828416
Disease: Radiation Damage
Radiation Damage
disease Wounds and Injuries Disease or Syndrome 44 0.010 None 1.000 1 2006 2006
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C0005741
Disease: Blepharitis
Blepharitis
disease Eye Diseases Disease or Syndrome 55 3 0.100 None 0