NCF2, neutrophil cytosolic factor 2, 4688

N. diseases: 90; N. variants: 30
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: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
CUI: C0024205
Disease: Lymphadenitis
Lymphadenitis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 2 0.100 None 0
CUI: C2673462
Disease: Recurrent Staphylococcus aureus infections
Recurrent Staphylococcus aureus infections 		phenotype Finding 11 1 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections 		phenotype Finding 13 1 0.100 None 0
CUI: C0023885
Disease: Liver Abscess
Liver Abscess 		disease Digestive System Diseases; Infections Disease or Syndrome 22 1 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C1844385
Disease: Absence of bactericidal oxidative respiratory burst in phagocytes
Absence of bactericidal oxidative respiratory burst in phagocytes 		phenotype Finding 4 0.100 None 0
CUI: C1844394
Disease: Decreased activity of NADPH oxidase
Decreased activity of NADPH oxidase 		phenotype Finding 5 0.100 None 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.100 None 0
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.100 None 0
CUI: C0521173
Disease: Granulomatosis
Granulomatosis 		disease Disease or Syndrome 14 1 0.100 None 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		phenotype Digestive System Diseases Pathologic Function 121 4 0.100 None 0
CUI: C0037199
Disease: Sinusitis
Sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0025289
Disease: Meningitis
Meningitis 		disease Nervous System Diseases Disease or Syndrome 191 13 0.100 None 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.100 None 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality 80 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
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: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		disease Disease or Syndrome 88 1 0.100 None 0