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: C0007642
Disease: Cellulitis
Cellulitis 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function 38 1 0.100 None 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.100 None 0 1
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0 1
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		group Finding 11 1 0.100 None 0
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections 		phenotype Finding 16 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: C4022890
Disease: Specific pneumococcal antibody deficiency
Specific pneumococcal antibody deficiency 		phenotype Finding 1 0.100 None 0
CUI: C4072920
Disease: Increased proportion of transitional B cells
Increased proportion of transitional B cells 		phenotype Finding 1 0.100 None 0
CUI: C4072925
Disease: Decreased proportion of class-switched memory B cells
Decreased proportion of class-switched memory B cells 		phenotype Finding 1 0.100 None 0
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell 		disease Neoplasms Neoplastic Process 75 7 0.010 None 1.000 1 1993 1993
CUI: C0086942
Disease: Rous Sarcoma
Rous Sarcoma 		disease Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease 60 0.010 None 1.000 1 1993 1993
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 414 16 0.010 None 1.000 1 1996 1996
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.010 None 1.000 1 1997 1997
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 1997 1997
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		disease Neoplasms Neoplastic Process 95 1 0.010 None 1.000 1 1999 1999
CUI: C0030354
Disease: Papilloma
Papilloma 		disease Neoplasms Neoplastic Process 273 27 0.010 None 1.000 1 2000 2000
CUI: C0041234
Disease: Chagas Disease
Chagas Disease 		disease Infections Disease or Syndrome 202 10 0.010 None 1.000 1 2001 2001
CUI: C1336745
Disease: Thymic Lymphoma
Thymic Lymphoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 45 0.010 None 1.000 1 2002 2002
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2004 2004
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.010 None 1.000 1 2004 2004
CUI: C0221232
Disease: Welts
Welts 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Sign or Symptom 53 0.010 None 1.000 1 2004 2004
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.010 None 1.000 1 2004 2004
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 182 3 0.010 None 1.000 1 2005 2005
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		disease Neoplasms Neoplastic Process 278 5 0.010 None 1.000 1 2005 2005