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: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		disease Neoplasms Neoplastic Process 413 14 0.010 None < 0.001 1 2016 2016
CUI: C0039103
Disease: Synovitis
Synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 197 0.010 None < 0.001 1 2019 2019
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 24 0.010 None < 0.001 1 2010 2010
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None < 0.001 1 2017 2017
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer 		disease Neoplastic Process 59 9 0.010 None < 0.001 1 2015 2015
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.020 None 0.500 2 2005 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 569 154 0.020 None 0.500 2 2016 2018
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		disease Neoplasms Neoplastic Process 623 12 0.050 None 0.600 5 2009 2018
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 449 10 0.050 None 0.600 5 2009 2018
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.030 None 0.667 3 2019 2020
CUI: C1849157
Disease: Resistance to Insulin-Like Growth Factor I
Resistance to Insulin-Like Growth Factor I 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 55 4 0.030 None 0.667 3 2017 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.030 None 0.667 3 2017 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.040 None 0.750 4 2010 2019
CUI: C0021400
Disease: Influenza
Influenza 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.040 None 0.750 4 2007 2019
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23 0.050 None 0.800 5 2013 2018