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: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.100 None 0
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.100 None 0
Recurrent Staphylococcus aureus infections
phenotype Finding 11 1 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: C0014836
Disease: Escherichia coli Infections
Escherichia coli Infections
group Infections Disease or Syndrome 38 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 74 1 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: C0037199
Disease: Sinusitis
Sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C1833487
Disease: Varicella, Severe Recurrent
Varicella, Severe Recurrent
disease Infections Disease or Syndrome 2 0.100 None 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis
phenotype Digestive System Diseases Pathologic Function 121 4 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C1844394
Disease: Decreased activity of NADPH oxidase
Decreased activity of NADPH oxidase
phenotype Finding 5 0.100 None 0
Deficiency or absence of cytochrome b(-245)
phenotype Finding 2 0.100 None 0
CUI: C0017574
Disease: Gingivitis
Gingivitis
disease Infections; Stomatognathic Diseases Disease or Syndrome 152 3 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
phenotype Finding 175 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 59 2 0.100 None 0
CUI: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections
phenotype Finding 13 1 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: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
disease Infections; Respiratory Tract Diseases Finding 62 11 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
CUI: C4023438
Disease: Recurrent mycobacterial infections
Recurrent mycobacterial infections
phenotype Finding 9 0.100 None 0