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: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.100 None 1.000 11 1996 2019
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.990 669 2 1998 2020
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.100 None 1.000 69 1998 2020
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.020 None 1.000 2 1998 2018
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 0.997 346 2000 2020
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.992 259 2000 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.100 None 0.932 148 2000 2020
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.100 None 0.934 137 2000 2020
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.100 None 0.911 90 2000 2020