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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Finding 17 0.100 None 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		phenotype Infections Finding 10 0.100 None 0
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.100 None 0
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.100 None 0
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 0
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		phenotype Finding 7 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None < 0.001 1 2005 2005
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None < 0.001 1 2019 2019
CUI: C3669048
Disease: Round cell tumor
Round cell tumor 		disease Neoplastic Process 12 0.010 None < 0.001 1 2001 2001
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.010 None < 0.001 1 2019 2019
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		disease Neoplasms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 25 2 0.010 None < 0.001 1 2017 2017
CUI: C1332212
Disease: Adult B Lymphoblastic Lymphoma
Adult B Lymphoblastic Lymphoma 		disease Neoplastic Process 12 0.010 None < 0.001 1 1998 1998
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.010 None < 0.001 1 2018 2018
CUI: C0855146
Disease: B Lymphoblastic Lymphoma
B Lymphoblastic Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.010 None < 0.001 1 1998 1998
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None < 0.001 1 2018 2018
CUI: C0349217
Disease: Depressive episode, unspecified
Depressive episode, unspecified 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 27 2 0.010 None < 0.001 1 2019 2019
CUI: C2350236
Disease: Idiopathic Interstitial Pneumonias
Idiopathic Interstitial Pneumonias 		disease Respiratory Tract Diseases Disease or Syndrome 64 4 0.010 None < 0.001 1 2006 2006
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None < 0.001 1 1994 1994
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 2 0.010 None < 0.001 1 2019 2019
CUI: C1332996
Disease: Childhood B Lymphoblastic Lymphoma
Childhood B Lymphoblastic Lymphoma 		disease Neoplastic Process 12 0.010 None < 0.001 1 1998 1998
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.010 None < 0.001 1 2006 2006
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 32 3 0.030 None 0.333 3 2004 2019