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: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2015 2015
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2015 2015
CUI: C0162529
Disease: Colitis, Ischemic
Colitis, Ischemic
disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 15 3 0.010 None 1.000 1 2015 2015
CUI: C0746731
Disease: Acute myocardial ischemia
Acute myocardial ischemia
disease Cardiovascular Diseases Disease or Syndrome 32 2 0.010 None 1.000 1 2014 2014
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2013 2013
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 558 44 0.010 None 1.000 1 2012 2012
CUI: C0042167
Disease: Uveitis, Posterior
Uveitis, Posterior
disease Eye Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 2012 2012
CUI: C4708643
Disease: Acroangiodermatitis of skin
Acroangiodermatitis of skin
disease Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.010 None 1.000 1 2012 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 2012 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.300 None 1.000 1 2012 2012
CUI: C4321305
Disease: Consumptive Coagulopathy
Consumptive Coagulopathy
disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2012 2012
CUI: C2608079
Disease: WARFARIN SENSITIVITY (disorder)
WARFARIN SENSITIVITY (disorder)
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 8 0.010 None < 0.001 1 1 2011 2011
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
phenotype Laboratory Procedure 62 522 0.100 None 1.000 2 6 2010 2017
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
phenotype Laboratory Procedure 62 522 0.100 None 1.000 2 6 2010 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2010 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2010 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2010 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2010 2010
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
disease Digestive System Diseases Disease or Syndrome 435 51 0.010 None 1.000 1 2010 2010
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.100 None 1.000 11 2009 2019
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.030 None 1.000 3 2009 2018
Severe hereditary factor VIII deficiency disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 37 15 0.020 None 0.500 2 2009 2017
CUI: C0262469
Disease: Embolic stroke
Embolic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2009 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2009 2009