Statements (71)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:anatomy |
myeloid cells
neutrophils |
| gptkbp:associated_with |
gptkb:Chronic_Granulomatous_Disease
fungal infections immunodeficiency X-linked inheritance increased susceptibility to infections granuloma formation increased risk of autoimmune disorders increased risk of chronic granulomatous inflammation increased risk of chronic granulomatous disease complications increased risk of abscesses increased risk of allergic diseases increased risk of aspergillosis increased risk of candidiasis increased risk of chronic bone infections increased risk of chronic infections increased risk of chronic inflammatory responses increased risk of chronic joint infections increased risk of chronic lung disease increased risk of chronic otitis media increased risk of chronic sinusitis increased risk of chronic skin infections increased risk of chronic systemic infections increased risk of chronic urinary tract infections increased risk of gastrointestinal infections increased risk of granulomatous disease increased risk of inflammatory diseases increased risk of opportunistic infections increased risk of osteomyelitis increased risk of pneumonia increased risk of respiratory infections increased risk of sepsis increased risk of skin infections increased risk of viral infections oxidative burst deficiency severe bacterial infections |
| gptkbp:clinical_trial |
pathogenic
|
| gptkbp:code |
NADPH oxidase subunit
|
| gptkbp:discovery_year |
gptkb:1990
|
| gptkbp:diseases |
gptkb:X-linked_CGD
|
| gptkbp:disorders_linked |
gptkb:X-linked_CGD
|
| gptkbp:genetic_studies |
rare
deletion insertion point mutation immunodeficiency impaired immune response reduced superoxide production |
| https://www.w3.org/2000/01/rdf-schema#label |
CYBB gene
|
| gptkbp:involved_in |
reactive oxygen species production
|
| gptkbp:is_expressed_in |
myeloid cells
|
| gptkbp:is_tested_for |
genetic testing
|
| gptkbp:known_as |
gp91^phox
|
| gptkbp:located_in |
X chromosome
|
| gptkbp:mapped_to |
Xp21.1
|
| gptkbp:mutation_location |
exon 2
|
| gptkbp:orthologs |
gptkb:mouse
rat |
| gptkbp:pathway |
NADPH oxidase pathway
|
| gptkbp:promoter |
gptkb:CYBB
NADPH oxidase family |
| gptkbp:research_areas |
immunology
|
| gptkbp:research_focus |
gene therapy approaches
|
| gptkbp:seed_dispersal |
protein-coding gene
|
| gptkbp:treatment |
gptkb:gene_therapy
antibiotic therapy interferon-gamma therapy |
| gptkbp:bfsParent |
gptkb:cytochrome_b-245_beta_chain
|
| gptkbp:bfsLayer |
8
|