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: C0032300
Disease: Lobar Pneumonia
Lobar Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 140 2 0.010 None 1.000 1 2006 2006
CUI: C3825879
Disease: Otitis media in children
Otitis media in children
disease Otorhinolaryngologic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2007 2007
CUI: C0473583
Disease: Nevus elasticus
Nevus elasticus
disease Neoplasms Neoplastic Process 37 5 0.010 None 1.000 1 2008 2008
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 57 323 0.010 None 1.000 1 2008 2008
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.010 None 1.000 1 2008 2008
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2008 2008
Malformations of Cortical Development, Group II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.010 None 1.000 1 2008 2008
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2008 2008
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 62 15 0.010 None 1.000 1 2008 2008
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 2008 2008
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.020 None 1.000 2 1998 2009
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.010 None 1.000 1 2009 2009
CUI: C0002793
Disease: Anaplasia
Anaplasia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.010 None 1.000 1 2009 2009
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None 1.000 1 2009 2009
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
group Endocrine System Diseases Disease or Syndrome 240 35 0.010 None 1.000 1 2009 2009
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 13 0.010 None 1.000 1 2010 2010
CUI: C0858213
Disease: vascular aneurysm
vascular aneurysm
disease Anatomical Abnormality 5 0.010 None 1.000 1 2010 2010
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.310 limited 1.000 2 2000 2011
Polycystic kidneys, severe infantile with tuberous sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 2 2004 2011
CUI: C0011813
Disease: Dextrocardia
Dextrocardia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 30 6 0.010 None 1.000 1 2011 2011
CUI: C0920646
Disease: Ischemia of kidney
Ischemia of kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 131 0.010 None 1.000 1 2011 2011
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2011 2011
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2011 2011
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2011 2011