CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 343; N. variants: 75
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: C1970859
Disease: Atypical Mycobacteriosis, Familial, X-Linked 2
Atypical Mycobacteriosis, Familial, X-Linked 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 1 2 0.700 strong 1.000 2 2 2007 2011
CUI: C0272220
Disease: Chronic granulomatous disease, type II
Chronic granulomatous disease, type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 1989 1989
CUI: C1833487
Disease: Varicella, Severe Recurrent
Varicella, Severe Recurrent 		disease Infections Disease or Syndrome 2 0.100 None 0
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: 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: 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: C0340434
Disease: Dystrophic cardiomyopathy
Dystrophic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2015 2015
CUI: C0393953
Disease: Anterior Cerebral Circulation Infarction
Anterior Cerebral Circulation Infarction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2009 2009
CUI: C0751952
Disease: Anterior Circulation Brain Infarction
Anterior Circulation Brain Infarction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2009 2009
CUI: C0751953
Disease: Brain Infarction, Posterior Circulation
Brain Infarction, Posterior Circulation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2009 2009
CUI: C0751954
Disease: Venous Infarction, Brain
Venous Infarction, Brain 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2009 2009
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: C0596032
Disease: acquired immunodeficiency
acquired immunodeficiency 		disease Immune System Diseases Disease or Syndrome 6 0.010 None 1.000 1 1988 1988
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 0.310 None 1.000 3 2000 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
CUI: C4023438
Disease: Recurrent mycobacterial infections
Recurrent mycobacterial infections 		phenotype Finding 9 0.100 None 0
CUI: C1846006
Disease: Ectodermal dysplasia, hypohidrotic, with immune deficiency
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
CUI: C2673462
Disease: Recurrent Staphylococcus aureus infections
Recurrent Staphylococcus aureus infections 		phenotype Finding 11 1 0.100 None 0
CUI: C0221033
Disease: Trisomy X syndrome
Trisomy X syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 12 0.010 None 1.000 1 1998 1998
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