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: C4025673
Disease: Recurrent Burkholderia cepacia infections
Recurrent Burkholderia cepacia infections 		phenotype Finding 4 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: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		disease Disease or Syndrome 88 1 0.100 None 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C4021752
Disease: Recurrent Aspergillus infections
Recurrent Aspergillus infections 		phenotype Finding 5 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: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 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: C1844394
Disease: Decreased activity of NADPH oxidase
Decreased activity of NADPH oxidase 		phenotype Finding 5 0.100 None 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		phenotype Digestive System Diseases Pathologic Function 121 4 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: C0149770
Disease: Rectal abscess
Rectal abscess 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Pathologic Function 9 0.100 None 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 1995 1995
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.110 None 1.000 1 1998 1998
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 49 10 0.010 None 1.000 1 2000 2000
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 33 22 0.010 None 1.000 1 2000 2000
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 68 69 0.010 None 1.000 1 2000 2000
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 8 0.010 None 1.000 1 2000 2000
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 2000 2000
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.010 None 1.000 1 2000 2000
CUI: C2242826
Disease: Myeloblastic leukemia
Myeloblastic leukemia 		disease Neoplastic Process 22 0.010 None 1.000 1 2002 2002
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		disease Neoplasms Neoplastic Process 105 3 0.010 None 1.000 1 2002 2002
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2004 2004
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.300 None 1.000 1 2004 2004