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: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.700 0.900 46 2 1995 2016
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 8 0.700 0.971 42 8 1995 2015
Cortisol 11-beta-ketoreductase deficiency
disease Disease or Syndrome 1 12 0.600 15 12 1985 2007
Mineralocorticoid Excess Syndrome, Apparent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.530 1.000 4 1996 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.500 1 2007 2007
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.310 1.000 2 2002 2006
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.300 1 2004 2004
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 110 3 0.300 1 2006 2006
CUI: C0032962
Disease: Pregnancy Complications
Pregnancy Complications
group Female Urogenital Diseases and Pregnancy Complications Pathologic Function 92 11 0.300 1 2002 2002
CUI: C0004096
Disease: Asthma
Asthma
disease Immune System Diseases; Respiratory Tract Diseases Disease or Syndrome 1312 729 0.300 1 2002 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 181 8 0.300 1 2004 2004
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.300 1 2004 2004
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 45 1 0.300 1 2006 2006
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 43 0.300 1 2006 2006
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction
phenotype Anatomical Abnormality 41 0.200 1 2007 2007
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.200 1 2007 2007
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 277 126 0.100 0.688 16 3 1996 2015
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 266 13 0.100 1.000 12 1995 2007
APPARENT MINERALOCORTICOID EXCESS, MILD
phenotype Finding 1 2 0.100 3 2 1998 2001
CUI: C0024032
Disease: Low Birth Weights
Low Birth Weights
phenotype Finding 92 0.100 0
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
disease Disease or Syndrome 10 3 0.100 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 0
Small for gestational age (disorder)
phenotype Finding 92 0.100 0
CUI: C0020621
Disease: Hypokalemia
Hypokalemia
phenotype Nutritional and Metabolic Diseases Finding 39 0.100 0
CUI: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy
disease Cardiovascular Diseases; Eye Diseases Disease or Syndrome 13 0.100 0