Source: ALL
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.
Hemophagocytic Lymphohistiocytosis, Familial, 1
disease Hemic and Lymphatic Diseases Disease or Syndrome 5 0.300 None 0
CUI: C0024198
Disease: Lyme Disease
Lyme Disease
disease Infections Disease or Syndrome 178 4 0.070 None 1.000 7 2004 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.060 None 1.000 6 2007 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.020 None 1.000 2 2000 2003
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2008 2008
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 56 42 0.010 None 1.000 1 2013 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2000 2000
CUI: C1260959
Disease: Drusen
Drusen
disease Disease or Syndrome 57 18 0.010 None 1.000 1 2014 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2012 2012
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.010 None 1.000 1 2014 2014
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 5 9 0.010 None 1.000 1 2013 2013
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2000 2000
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2000 2000
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 2012 2012
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.010 None 1.000 1 2008 2008
CUI: C0085435
Disease: Arthritis, Reactive
Arthritis, Reactive
disease Infections; Musculoskeletal Diseases Disease or Syndrome 63 2 0.010 None 1.000 1 2000 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2014 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2000 2000
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 10 0.010 None 1.000 1 2014 2014
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 110 7 0.010 None 1.000 1 2014 2014
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.010 None 1.000 1 2017 2017
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.010 None 1.000 1 2013 2013