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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.300 1 1 2006 2006
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.020 1.000 2 2013 2013
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 1328 197 0.020 1.000 2 2013 2013
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 547 293 0.010 1.000 1 2016 2016
Symmetrical dyschromatosis of extremities
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 15 9 0.010 1.000 1 2014 2014
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 144 94 0.010 1.000 1 2006 2006
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.010 1.000 1 2013 2013
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 78 4 0.010 1.000 1 2013 2013
CUI: C0035920
Disease: Rubella
Rubella
disease Virus Diseases Disease or Syndrome 36 1 0.010 1.000 1 2010 2010
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 659 259 0.010 1.000 1 2006 2006
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 414 99 0.010 1.000 1 2013 2013
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.010 1.000 1 2016 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.010 1.000 1 2016 2016
CUI: C0011847
Disease: Diabetes
Diabetes
disease Disease or Syndrome 1267 349 0.010 1.000 1 2016 2016
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease Hemic and Lymphatic Diseases; Immune System Diseases Disease or Syndrome 20 43 0.010 1.000 1 1996 1996
Congenital arteriovenous malformation
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 65 5 0.010 1.000 1 2013 2013
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 13 1 0.010 1.000 1 2013 2013