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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 1 3 2017 2017
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: 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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.030 None 1.000 3 2017 2018
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.020 None 1.000 2 2005 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: 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: 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: 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: 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: C0376618
Disease: Endotoxemia
Endotoxemia
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.010 None 1.000 1 2019 2019
Hypocalciuric hypercalcemia, familial, type 1
disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 0.010 None 1.000 1 2007 2007
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2018 2018
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: C0451641
Disease: Urolithiasis
Urolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 33 0.010 None 1.000 1 4 2019 2019
Hyperkalemic Mineralocorticoid Resistance
disease Disease or Syndrome 22 3 0.010 None 1.000 1 2007 2007
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: C0877173
Disease: Food aversion
Food aversion
disease Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2009 2009
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2017 2017
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: C4285890
Disease: Carotid artery calcification
Carotid artery calcification
disease Disease or Syndrome 5 3 0.010 None 1.000 1 2018 2018
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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 1999 1999