CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 343; N. variants: 75
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340434
Disease: Dystrophic cardiomyopathy
Dystrophic cardiomyopathy
0.010 AlteredExpression disease BEFREE The NOX2 isoform is upregulated in numerous disorders, including dystrophic cardiomyopathy, where it drives the progression of the disease. 26503985 2015