CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
Disease: Chronic granulomatous disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.500 GeneticVariation group BEFREE Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. 1763037 1991
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.500 Biomarker group CTD_human Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. 2243141 1990