Mitochondria Phenome Knowledgebase

Gene Symbol CYBA
Ensembl ID ENSG00000051523 Entrez 1535
Gene Alias - Subcellular Locations Membrane Mitochondria-related
Map Position 16q24 Subcell PMIDs 10788525
OMIM Gene 608508 Protein Complex NADPH oxidase complex
Swissprot ID P13498 Swissprot Description Cytochrome b-245 light chain (p22 phagocyte B-cytochrome) (Neutrophil cytochrome B, 22 kDa polypeptide) (p22-phox) (p22phox) (Cytochrome B(558) alpha chain) (Cytochrome b558 alpha-subunit) (Superoxide-generating NADPH oxidase light chain subunit)
OMIM Disease Chronic granulomatosis disease (CGD) [233690]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
CYBA 233690 Musculoskeletal-diseases musculoskeletal #10759707 #10910929
CYBA 233690 Bone-diseases musculoskeletal #10759707 #10910929
CYBA 233690 Osteomyelitis multifocal; bone abscess; bacterial; related to immunodeficiency musculoskeletal 10759707 10910929
CYBA 233690 Digestive-system-diseases gastrointestinal #8168815 #10910929 #12073015 #16157492
CYBA 233690 Gastrointestinal-diseases celiac disease; perirectal abscesses; related to immunodeficiency gastrointestinal 10910929 16157492
CYBA 233690 Gastroenteritis gastrointestinal infection gastrointestinal 10910929
CYBA 233690 Liver-diseases liver abscesses; hepatic abscesses gastrointestinal 10910929 12073015 16157492
CYBA 233690 Diarrhea intermittent gastrointestinal 8168815 10910929
CYBA 233690 Respiratory-tract-diseases respiratory #1763037 #8168815 #10759707 #10910929 #16157492
CYBA 233690 Lung-diseases respiratory #1763037 #8168815 #10759707 #10910929 #16157492
CYBA 233690 Pulmonary-fibrosis interstitial pulmonary fibrosis respiratory 1763037
CYBA 233690 Pneumonia bronchopneumonia; recurrent pneumoniae respiratory 1763037 8168815 10759707 10910929
CYBA 233690 Pulmonary-hemorrhage pulmonary bleeding respiratory 16157492
CYBA 233690 Respiration-disorders respiratory #10910929 #16157492
CYBA 233690 Respiratory-insufficiency respiratory conditions impaired; respiratory problems; sarkoidosis like lung disease; related to immunodeficiency respiratory 10910929 16157492
CYBA 233690 Nervous-system-diseases neurologic #1763037
CYBA 233690 Central-nervous-system-diseases neurologic #1763037
CYBA 233690 Brain-diseases neurologic #1763037
CYBA 233690 Cerebral-atrophy cortical atrophy neurologic 1763037
CYBA 233690 Neurologic-manifestations neurologic #1763037
CYBA 233690 Neurobehavioral-manifestations neurologic #1763037
CYBA 233690 Mental-retardation neurologic 1763037
CYBA 233690 Cardiovascular-diseases cardiovascular #9445163 #10440830 #10488959 #10700443
CYBA 233690 Vascular-diseases cardiovascular #9445163 #10440830 #10488959 #10700443
CYBA 233690 Arteriosclerosis coronary atherosclerosis; susceptibility disputed cardiovascular 9445163 10440830 10700443
CYBA 233690 Hypertension arterial hypertension cardiovascular 9445163 10488959
CYBA 233690 Myocardial-ischemia cardiovascular #9445163 #10440830 #10488959 #10700443
CYBA 233690 Coronary-disease coronary artery disease; CAD; coronary artery stenoses cardiovascular 9445163 10440830 10488959 10700443
CYBA 233690 Hematologic-diseases hematologic #2243141 #8168815 #10759707 #10910929 #12073015 #16157492
CYBA 233690 Blood-platelet-disorders hematologic #10910929
CYBA 233690 Thrombocytopenia chronic; immune thrombocytopenia hematologic 10910929
CYBA 233690 Lymphatic-diseases lymphadenitis; cervical adenitis; inguinal adenitis; lymph node abscesses hematologic #2243141 8168815 #10759707 10910929 12073015 16157492
CYBA 233690 Granuloma tissue biopsy; septic; granulomatosis; granulomata hematologic 2243141 8168815 10759707 10910929 16157492
CYBA 233690 Skin-diseases dermatologic #8168815 #10910929
CYBA 233690 Dermatitis skin infections; eczematoid dermatitis; cellulitis; dacryocystitis; related to immunodeficiency; pustular dermatitis; skin abscesses dermatologic 8168815 10910929
CYBA 233690 Metabolic-diseases metabolic #9445163 #16157492
CYBA 233690 Dyslipidemias metabolic #9445163
CYBA 233690 Hyperlipidemia metabolic #9445163
CYBA 233690 Hypercholesterolemia cholesterol elevated metabolic 9445163
CYBA 233690 Glucose-metabolism-disorders metabolic #9445163
CYBA 233690 Diabetes-mellitus metabolic 9445163
CYBA 233690 Hemochromatosis hemosiderosis; lung; pulmonary bleeding metabolic 16157492
CYBA 233690 Immune-system-diseases immunologic #1763037 #2243141 #8168815 #8723692 #10759707 #10910929 #12073015
CYBA 233690 Immune-deficiency congenital immunodeficiency syndrome; bactericidal capacity of phagocytic cells is abolished immunologic 8168815 8723692 12073015
CYBA 233690 Infections severe; recurrent; bacterial infections; fungal infections; mycosis; cellulitis; sepsis; septicemia; kidney infection; urinary tract infections; related to immunodeficiency immunologic 1763037 2243141 8168815 8723692 10759707 10910929 12073015
CYBA 233690 Body-temperature-changes miscellaneous #10910929
CYBA 233690 Fever miscellaneous 10910929
CYBA 233690 Growth-disorders miscellaneous #8168815
CYBA 233690 Failure-to-thrive miscellaneous 8168815

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons