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.
CUI: C1963916
Disease: Diabetic peripheral neuropathic pain
Diabetic peripheral neuropathic pain 		disease Disease or Syndrome 1 1 0.010 None 1.000 1 2018 2018
CUI: C0021342
Disease: Infectious enteritis
Infectious enteritis 		disease Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 11 0.010 None 1.000 1 2003 2003
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 6 0.010 None 1.000 1 2007 2007
CUI: C0740766
Disease: Acute pneumonia
Acute pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 29 0.010 None 1.000 1 2018 2018
CUI: C0014009
Disease: Empyema
Empyema 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 31 0.010 None 1.000 1 2019 2019
CUI: C0036685
Disease: Septicaemia due to gram-negative organism, unspecified
Septicaemia due to gram-negative organism, unspecified 		group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 33 2 0.020 None 1.000 2 1 2007 2014
CUI: C0014836
Disease: Escherichia coli Infections
Escherichia coli Infections 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2007 2007
CUI: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 48 3 0.010 None 1.000 1 2018 2018
CUI: C0184567
Disease: Acute onset pain
Acute onset pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 53 6 0.010 None 1.000 1 2017 2017
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 54 122 0.010 None 1.000 1 2018 2018
CUI: C4050407
Disease: Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 15 0.010 None < 0.001 1 2005 2005
CUI: C3873567
Disease: Peripheral neuropathy due to and following chemotherapy
Peripheral neuropathy due to and following chemotherapy 		disease Nervous System Diseases Disease or Syndrome 72 10 0.010 None 1.000 1 2018 2018
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 73 48 0.010 None 1.000 1 1999 1999
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 82 8 0.010 None 1.000 1 2017 2017
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 21 0.010 None 1.000 1 2018 2018
CUI: C0013371
Disease: Shigella Infections
Shigella Infections 		group Digestive System Diseases; Infections Disease or Syndrome 121 0.010 None 1.000 1 2017 2017
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 126 18 0.010 None < 0.001 1 2005 2005
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 143 295 0.010 None 1.000 1 2017 2017
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.010 None 1.000 1 2018 2018
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.010 None 1.000 1 1996 1996
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.010 None 1.000 1 2018 2018
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 181 29 0.010 None 1.000 1 2007 2007
CUI: C0242966
Disease: Systemic Inflammatory Response Syndrome
Systemic Inflammatory Response Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 185 9 0.010 None 1.000 1 2007 2007
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.010 None 1.000 1 1996 1996