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: C0005136
Disease: Berry Aneurysm
Berry Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 1 0.300 None 1.000 1 2009 2009
Aneurysm, Anterior Communicating Artery
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C0740387
Disease: Aneurysm, Posterior Cerebral Artery
Aneurysm, Posterior Cerebral Artery
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C0751000
Disease: Aneurysm, Anterior Cerebral Artery
Aneurysm, Anterior Cerebral Artery
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C0751001
Disease: Aneurysm, Basilar Artery
Aneurysm, Basilar Artery
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C0740385
Disease: Aneurysm, Middle Cerebral Artery
Aneurysm, Middle Cerebral Artery
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2009 2009
Aneurysm, Posterior Communicating Artery
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2009 2009
CUI: C0751005
Disease: Mycotic Aneurysm, Intracranial
Mycotic Aneurysm, Intracranial
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2009 2009
CUI: C0751004
Disease: Giant Intracranial Aneurysm
Giant Intracranial Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 1 2009 2009
Acute disseminated encephalitis and encephalomyelitis (ADEM)
disease Disease or Syndrome 3 0.010 None 1.000 1 2004 2004
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
disease Disease or Syndrome 3 2 0.100 None 1.000 1 1 2015 2015
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
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 8 0.700 strong 1.000 3 8 2000 2013
CUI: C0751003
Disease: Brain Aneurysm
Brain Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.300 None 1.000 1 2009 2009
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
Absence of bactericidal oxidative respiratory burst in phagocytes
phenotype Finding 4 0.100 None 0
Recurrent Burkholderia cepacia infections
phenotype Finding 4 0.100 None 0
Recurrent Serratia marcescens infections
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: 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
Autosomal Recessive Chronic Granulomatous Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.040 None 0.750 4 1989 2019
CUI: C0149770
Disease: Rectal abscess
Rectal abscess
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Pathologic Function 9 0.100 None 0
Ectodermal dysplasia, hypohidrotic, with immune deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 10 13 0.010 None 1.000 1 2008 2008
Recurrent Staphylococcus aureus infections
phenotype Finding 11 1 0.100 None 0