CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 343; N. variants: 75
Disease: Aortic Valve Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.010 GeneticVariation disease BEFREE The patients with X-linked disease, lacking a functional gp91phox protein (n = 12), comprised 57% and 43% of the patients had an autosomal recessive (AR) disease lacking p47phox (n = 7) or p67phox (n = 1), respectively. 8645957 1995