Mitochondria Phenome Knowledgebase

Gene Symbol CYBB
Ensembl ID ENSG00000165168 Entrez 1536
Gene Alias CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2 Subcellular Locations Membrane Mitochondria-related
Map Position Xp21.1 Subcell PMIDs 10788525
OMIM Gene 300481 Protein Complex NADPH oxidase complex
Swissprot ID P04839 Swissprot Description Cytochrome B-245 heavy chain (P22 phagocyte B-cytochrome) (Neutrophil cytochrome B, 91 kDa polypeptide) (CGD91-PHOX) (GP91-PHOX) (GP91-1) (Heme binding membrane glycoprotein GP91PHOX) (Cytochrome B(558) beta chain) (Superoxide-generating NADPH oxidase heavy chain subunit) (NADPH oxidase 2) (NOX2)
OMIM Disease Chronic granulomatosis disease X linked (CGD) [306400]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
CYBB 306400 Neoplasms oncologic #16138344
CYBB 306400 Leukemia-Lymphoma acute lymphoblastic leukemia; ALL oncologic 16138344
CYBB 306400 Musculoskeletal-diseases musculoskeletal #1974155 #12094329 #15082894 #15308575
CYBB 306400 Bone-diseases musculoskeletal #1974155 #12094329 #15082894 #15308575
CYBB 306400 Osteomyelitis related to immunodeficiency musculoskeletal 1974155 12094329 15082894 15308575
CYBB 306400 Joint-diseases musculoskeletal #15308575
CYBB 306400 Arthritis septic; arthralgia musculoskeletal 15308575
CYBB 306400 Digestive-system-diseases gastrointestinal #1974155 #8182143 #9856476 #10068684 #11435314 #11997083 #12094329 #15082894 #15308575 #15468310 #16138344
CYBB 306400 Biliary-tract-diseases gastrointestinal #15468310
CYBB 306400 Cholangitis Histological signs of cholangitis; bile duct inflammation gastrointestinal 15468310
CYBB 306400 Gastrointestinal-diseases Crohn like disease; perianal abscesses; perirectal abscesses gastrointestinal 1974155 #8182143 9856476 10068684 12094329 15082894 15308575 15468310
CYBB 306400 Gastroenteritis hemorrhagic enteritis; stomatitis; proctitis gastrointestinal 8182143 15308575 15468310
CYBB 306400 Liver-diseases liver abscesses; hepatic abscesses; liver cysts; calcified lesions gastrointestinal 1974155 8182143 10068684 11435314 11997083 12094329 15082894 15308575 15468310 #16138344
CYBB 306400 Hepatitis gastrointestinal 15082894
CYBB 306400 Hepatomegaly hepatic mass gastrointestinal 8182143 15468310 16138344
CYBB 306400 Abdominal-pain gastrointestinal 15468310
CYBB 306400 Respiratory-tract-diseases respiratory #8182143 #9856476 #11435314 #12094329 #15082894 #15308575 #16138344
CYBB 306400 Lung-diseases respiratory #8182143 #9856476 #11435314 #12094329 #15082894 #15308575 #16138344
CYBB 306400 Pulmonary-fibrosis fibrotic tissue formation in lungs respiratory 15308575
CYBB 306400 Pneumonia pneumonia; recurrent pneumoniae; pulmonary infection respiratory 8182143 9856476 11435314 12094329 15082894 15308575 16138344
CYBB 306400 Respiration-disorders respiratory #15308575 #16138344
CYBB 306400 Respiratory-insufficiency pulmonary insufficiency; related to immunodeficiency respiratory 15308575 16138344
CYBB 306400 Eye-diseases ophthalmologic #15308575
CYBB 306400 Uveal-diseases ophthalmologic #15308575
CYBB 306400 Panuveitis ophthalmologic 15308575
CYBB 306400 Genitourinary-diseases genitourinary #15082894
CYBB 306400 Urologic-diseases genitourinary #15082894
CYBB 306400 Kidney-diseases genitourinary #15082894
CYBB 306400 Renal-insufficiency renal failure genitourinary 15082894
CYBB 306400 Hematologic-diseases hematologic #1974155 #9856476 #10068684 #11435314 #11997083 #12094329 #15082894 #15308575 #15468310 #16138344
CYBB 306400 Anemia dimorphic anemia; anisocytosis hematologic 15308575
CYBB 306400 Blood-coagulation-disorders disseminated intravascular coagulopathy hematologic 15082894
CYBB 306400 Blood-protein-disorders hematologic #15308575
CYBB 306400 Hypergammaglobulinemia hematologic 15308575
CYBB 306400 Bone-marrow-diseases myeloid erythroid ratio increased; bone marrow fibrosis; hematopoiesis abnormal; myelodysplasia hematologic 15308575 16138344
CYBB 306400 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 16138344
CYBB 306400 Leukocyte-disorders hematologic #15308575 #16138344
CYBB 306400 Leukocytosis neutrophilia hematologic 15308575 16138344
CYBB 306400 Lymphatic-diseases lymphadenitis; lymphadenopathy; inguinal adenitis; suppurative adenitis; cervical adenopathy hematologic 1974155 9856476 10068684 11435314 11997083 12094329 15082894 15308575 15468310
CYBB 306400 Granuloma tissue biopsy; septic; granulomatosis; granulomatous tissue formation; granuloma formation; granulomatous hematologic 9856476 10068684 15082894 15308575 15468310
CYBB 306400 Skin-diseases acne vulgaris dermatologic #1974155 11435314 #11566256 #15308575 #16138344
CYBB 306400 Dermatitis skin infections; skin abscesses; vasculitis like skin rash; pyoderma gangrenosum; related to immunodeficiency dermatologic 1974155 11566256 15308575
CYBB 306400 Paleness pallor dermatologic 16138344
CYBB 306400 Immune-system-diseases immunologic #1974155 #8182143 #9856476 #10068684 #11435314 #11566256 #11997083 #12094329 #15082894 #15308575 #15468310
CYBB 306400 Immune-deficiency primary; innate immune system deficiency; immunodeficiency immunologic 11566256 15308575 15468310
CYBB 306400 Infections recurrent; bacterial infections; fungal infections; sepsis; cellulitis; cystitis; urinary tract infections; related to immunodeficiency; stomatitis; septicemia; tuberculosis; meningitis; recurrent infections; intractable infections immunologic 1974155 8182143 9856476 10068684 11435314 11566256 11997083 12094329 15082894 15468310
CYBB 306400 Body-temperature-changes miscellaneous #1974155 #15082894 #15468310 #16138344
CYBB 306400 Fever febrile; recurrent fever; enteric fever miscellaneous 1974155 15082894 15468310 16138344
CYBB 306400 Splenomegaly miscellaneous 8182143 16138344
CYBB 306400 Growth-disorders miscellaneous #16138344
CYBB 306400 Failure-to-thrive height; weight miscellaneous 16138344

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