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.
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
disease Disease or Syndrome 1 9 0.700 None 1.000 7 9 2012 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.150 None 1.000 5 2015 2019
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.110 None 1.000 1 2019 2019
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.110 None 1.000 1 2017 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 1.000 12 2015 2020
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 1 2018 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 12 2017 2017
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.100 None 1.000 1 1 2018 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
Chemical and Drug Induced Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 0.100 None 1.000 1 1 2017 2017
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 0
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease
disease Respiratory Tract Diseases Disease or Syndrome 133 12 0.100 None 0
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 62 9 0.100 None 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 81 0.100 None 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.100 None 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers
disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.100 None 0
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis
disease Eye Diseases Disease or Syndrome 82 1 0.100 None 0