CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: Granulomatous Disease, Chronic, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 GeneticVariation disease BEFREE X-linked chronic granulomatous disease (X-CGD) is a primary immunodeficiency disease of phagocytes caused by mutations in the cytochrome b(558)β (CYBB) gene. 22305980 2012
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 GeneticVariation disease BEFREE We report here two atypical cases of X-linked CGD patients (first cousins) in which cytochrome b(558) is present at a normal level but is not functional (X91+). 11997083 2002
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease. 10068684 1999
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 GeneticVariation disease BEFREE A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b. 7713925 1995
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease. 7756659 1995
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE Since the genetic mutation responsible for this type of CGD results in the absence of cytochrome b-558 in PMNs, fibroblasts should be affected in the same way if both cytochrome species were identical. 7678734 1993
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 GeneticVariation disease BEFREE A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease. 8101486 1993
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE Cytochrome b positive X-linked chronic granulomatous disease: a normal cell surface expression of cytochrome b. 1323464 1992
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE Variant X-linked chronic granulomatous disease (CGD) is characterised by a decreased but still measurable respiratory burst and cytochrome b content of phagocytes resulting in a clinically milder form of the disease. 1659535 1991
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE Phagocytes from X-linked chronic granulomatous disease (X-CGD) patients are deficient in their ability to generate superoxide because of a defective gene that encodes a heavy chain of cytochrome b, a critical component in the superoxide-generating pathway. 2176110 1990
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 GeneticVariation disease BEFREE A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. 2556453 1989
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE In association with these functional changes, we observed an increase in cellular contents of phagocyte cytochrome b (a critical component of the superoxide-producing oxidase) and immunoreactive cytochrome b heavy chain (the product of the gene that is defective in X-linked chronic granulomatous disease). 2838754 1988
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE Cytochrome b-245 is the only clearly defined component of this oxidase system and its absence provides the molecular basis of X-linked chronic granulomatous disease (CGD), in which a profound predisposition to infection results from complete failure of this respiratory burst. 3821877 1987
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 GeneticVariation disease BEFREE The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245. 3600769 1987
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 GeneticVariation disease BEFREE The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. 3600768 1987
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 Biomarker disease BEFREE Somatic cell hybridization was performed between the monocytes from the affected boy in this family with monocytes from either a cytochrome b-negative male patient with X-linked chronic granulomatous disease or a cytochrome b-positive male patient with the classic autosomal form of this disease. 3980731 1985
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.100 GeneticVariation disease BEFREE A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b. 6409648 1983