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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 1999 1999
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 1999 1999
CUI: C0543800
Disease: Idiopathic hypercalciuria
Idiopathic hypercalciuria
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 1 0.020 None 0.500 2 2002 2009
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2002 2002
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2002 2002
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.020 None 1.000 2 2005 2010
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2007 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2007 2007
Hypocalciuric hypercalcemia, familial, type 1
disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 0.010 None 1.000 1 2007 2007
Hyperkalemic Mineralocorticoid Resistance
disease Disease or Syndrome 22 3 0.010 None 1.000 1 2007 2007
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria
phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.010 None 1.000 1 2007 2007
CUI: C3469605
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID
PSEUDOHYPOALDOSTERONISM, TYPE IID
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 29 0.010 None 1.000 1 2007 2007
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 7 1 0.010 None < 0.001 1 2009 2009
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2009 2009
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2009 2009
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 120 0.010 None 1.000 1 2010 2010
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
disease Infections; Respiratory Tract Diseases Disease or Syndrome 358 171 0.020 None 1.000 2 2011 2017
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.010 None 1.000 1 2012 2012
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2013 2013
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.020 None 1.000 2 2014 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2014 2014
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.050 None 1.000 5 2 2015 2019
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.050 None 1.000 5 2 2015 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2015 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.030 None 1.000 3 2017 2018