NCF1, neutrophil cytosolic factor 1, 653361

N. diseases: 170; N. variants: 11
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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 0
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
Familial Hypertrophic Cardiomyopathy Type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 145 0.100 None 0 1
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 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: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 59 2 0.100 None 0
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 0
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid
disease Skin and Connective Tissue Diseases Disease or Syndrome 552 46 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: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0025289
Disease: Meningitis
Meningitis
disease Nervous System Diseases Disease or Syndrome 191 13 0.100 None 0
CUI: C0017574
Disease: Gingivitis
Gingivitis
disease Infections; Stomatognathic Diseases Disease or Syndrome 152 3 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: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections
phenotype Finding 13 1 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 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: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye
disease Disease or Syndrome 88 1 0.100 None 0
CUI: C4021751
Disease: Recurrent Klebsiella infections
Recurrent Klebsiella infections
phenotype Finding 5 0.100 None 0
CUI: C4021752
Disease: Recurrent Aspergillus infections
Recurrent Aspergillus infections
phenotype Finding 5 0.100 None 0
Recurrent Burkholderia cepacia infections
phenotype Finding 4 0.100 None 0