CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
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: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 15 0.700 strong 1.000 12 15 1990 2016
CUI: C1844390
Disease: Deficiency or absence of cytochrome b(-245)
Deficiency or absence of cytochrome b(-245) 		phenotype Finding 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: C4025673
Disease: Recurrent Burkholderia cepacia infections
Recurrent Burkholderia cepacia infections 		phenotype Finding 4 0.100 None 0
CUI: C4025682
Disease: Recurrent Serratia marcescens infections
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
CUI: C2919365
Disease: Macroalbuminuric diabetic nephropathy
Macroalbuminuric diabetic nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 1 2017 2017
CUI: C3661525
Disease: Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Chronic Granulomatous Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.330 None 1.000 3 1990 2009
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: C0272192
Disease: Familial eosinophilia
Familial eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2013 2013
CUI: C2673462
Disease: Recurrent Staphylococcus aureus infections
Recurrent Staphylococcus aureus infections 		phenotype Finding 11 1 0.100 None 0
CUI: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections 		phenotype Finding 13 1 0.100 None 0
CUI: C0521173
Disease: Granulomatosis
Granulomatosis 		disease Disease or Syndrome 14 1 0.100 None 0
CUI: C0021308
Disease: Infarction
Infarction 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 0.010 None 1.000 1 2007 2007
CUI: C1863999
Disease: Peroxisome Biogenesis Disorder, Complementation Group D
Peroxisome Biogenesis Disorder, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.010 None 1.000 1 3 2017 2017
CUI: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 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: C0339505
Disease: Venous retinal branch occlusion
Venous retinal branch occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 25 7 0.010 None 1.000 1 2015 2015
CUI: C0010073
Disease: Coronary Artery Vasospasm
Coronary Artery Vasospasm 		disease Cardiovascular Diseases Disease or Syndrome 30 9 0.010 None 1.000 1 2004 2004
CUI: C1306889
Disease: Peripheral arterial occlusive disease
Peripheral arterial occlusive disease 		disease Cardiovascular Diseases Disease or Syndrome 35 3 0.010 None < 0.001 1 2000 2000
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: C0014836
Disease: Escherichia coli Infections
Escherichia coli Infections 		group Infections Disease or Syndrome 38 0.100 None 0
CUI: C0152451
Disease: Chronic glomerulonephritis
Chronic glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 7 0.010 None 1.000 1 2016 2016