CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
Disease: Autosomal Recessive Chronic Granulomatous Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3661525
Disease: Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Chronic Granulomatous Disease 		0.330 GeneticVariation disease BEFREE Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease. 19292887 2009
CUI: C3661525
Disease: Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Chronic Granulomatous Disease 		0.330 GeneticVariation disease BEFREE Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995 2008
CUI: C3661525
Disease: Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Chronic Granulomatous Disease 		0.330 Biomarker disease 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
CUI: C3661525
Disease: Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Chronic Granulomatous Disease 		0.330 GeneticVariation disease BEFREE Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. 2243141 1990