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: C0877173
Disease: Food aversion
Food aversion 		disease Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
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: 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: C0020599
Disease: Hypocalciuria
Hypocalciuria 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.020 None 1.000 2 2005 2010
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: C4288936
Disease: Hyperkalemic Mineralocorticoid Resistance
Hyperkalemic Mineralocorticoid Resistance 		disease Disease or Syndrome 22 3 0.010 None 1.000 1 2007 2007
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: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 0.010 None 1.000 1 2007 2007
CUI: C0011127
Disease: Pressure Ulcer
Pressure Ulcer 		disease Skin and Connective Tissue Diseases Disease or Syndrome 49 1 0.010 None 1.000 1 2020 2020
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.010 None 1.000 1 2007 2007
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
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: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 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 1999 1999
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: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.010 None 1.000 1 2017 2017
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: 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: C0376618
Disease: Endotoxemia
Endotoxemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.010 None 1.000 1 2019 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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 1999 1999
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: 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: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2017 2017