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: C0027404
Disease: Narcolepsy
Narcolepsy
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 257 440 0.100 1 1 2009 2009
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
disease Bacterial Infections and Mycoses; Respiratory Tract Diseases Disease or Syndrome 56 3 0.080 1.000 8 2002 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 162 49 0.080 1.000 8 2009 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.040 1.000 4 2011 2016
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 87 24 0.020 1.000 2 2012 2014
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 496 14 0.020 1.000 2 2001 2004
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.020 1.000 2 2009 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.020 1.000 2 2014 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.020 1.000 2 2011 2016
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 35 0.020 1.000 2 2012 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.020 1.000 2 2 2006 2011
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
disease Disease or Syndrome 59 17 0.010 1.000 1 2000 2000
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 322 90 0.010 1.000 1 2015 2015
CUI: C0265101
Disease: Carotid artery occlusion
Carotid artery occlusion
phenotype Disease or Syndrome 23 0.010 1.000 1 2011 2011
CUI: C0275524
Disease: Coinfection
Coinfection
phenotype Bacterial Infections and Mycoses; Parasitic Diseases; Virus Diseases Disease or Syndrome 170 8 0.010 1.000 1 2003 2003
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental or Behavioral Dysfunction 219 60 0.010 1.000 1 2008 2008
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplastic Process 152 0.010 1.000 1 2016 2016
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 708 59 0.010 1.000 1 2007 2007
CUI: C0851886
Disease: Pneumocystis Infections
Pneumocystis Infections
group Bacterial Infections and Mycoses Disease or Syndrome 8 0.010 1.000 1 2004 2004
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 2 0.010 1.000 1 2000 2000
CUI: C0040425
Disease: Tonsillitis
Tonsillitis
disease Otorhinolaryngologic Diseases; Respiratory Tract Diseases; Stomatognathic Diseases Disease or Syndrome 15 0.010 1.000 1 2009 2009
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
group Immune System Diseases; Virus Diseases Disease or Syndrome 187 33 0.010 1.000 1 1998 1998
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1832 1878 0.010 1.000 1 2009 2009
CUI: C0013146
Disease: Drug abuse
Drug abuse
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 228 25 0.010 1.000 1 2010 2010
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
group Immune System Diseases Disease or Syndrome 249 160 0.010 1.000 1 2014 2014