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: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C0017574
Disease: Gingivitis
Gingivitis
disease Infections; Stomatognathic Diseases Disease or Syndrome 152 3 0.100 None 0
CUI: C0035455
Disease: Rhinitis
Rhinitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 0.100 None 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE
phenotype Finding 68 0.100 None 0
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.100 None 0
CUI: C0031350
Disease: Pharyngitis
Pharyngitis
disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 30 0.100 None 0
CUI: C1858981
Disease: Antineutrophil antibody positivity
Antineutrophil antibody positivity
phenotype Laboratory or Test Result 15 0.100 None 0
CUI: C1855067
Disease: B lymphocytopenia
B lymphocytopenia
phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 13 0.100 None 0
Recurrent infection of the gastrointestinal tract
phenotype Finding 16 0.100 None 0
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections
phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 0
CUI: C0031099
Disease: Periodontitis
Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 682 116 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections
phenotype Finding 16 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection
phenotype Infections Finding 69 0.100 None 0
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.100 None 0
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.100 None 0
decreased absolute neurophile count (ANC)
phenotype Finding 1 0.200 None 0
CUI: C0427543
Disease: Increased blood monocyte number
Increased blood monocyte number
phenotype Laboratory or Test Result 8 0.100 None 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections
group Finding 11 1 0.100 None 0
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.200 None 0
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.100 None 0
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer
disease Stomatognathic Diseases Disease or Syndrome 80 22 0.100 None 0
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 0
CUI: C0018916
Disease: Hemangioma
Hemangioma
disease Neoplasms Neoplastic Process 256 24 0.100 None 0