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: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired
disease Hemic and Lymphatic Diseases Disease or Syndrome 16 1 0.300 None 1.000 1 2005 2005
CUI: C0002063
Disease: Alkalosis
Alkalosis
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 25 2 0.200 None 1.000 1 1999 1999
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 6 0.200 None 1.000 1 1986 1986
Other specified iron deficiency anemias
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 13 0.200 None 1.000 1 1992 1992
CUI: C0032827
Disease: Potassium Deficiency
Potassium Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 14 0.200 None 1.000 1 2007 2007
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.130 None 1.000 3 2007 2013
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.120 None 1.000 2 2003 2010
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.120 None 1.000 2 2003 2010
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.110 None 1.000 1 1 2008 2008
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 2 2016 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 2 2016 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 2 2016 2016
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0162701
Disease: Polysomnography
Polysomnography
phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 1 2012 2012
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 2 2012 2012
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0553720
Disease: Spherocytosis
Spherocytosis
phenotype Finding 5 0.100 None 0
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 41 30 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0