AKAP13, A-kinase anchoring protein 13, 11214

N. diseases: 73; N. variants: 15
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 		0.020 GeneticVariation group BEFREE A male CGD patient with pg91(phox) deficiency exhibited a trend toward prolongation of this calcium response, whereas two other CGD patients (one with p47 and one with 67(phox) deficiencies) had normal calcium transients. 15527168 2004
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.020 AlteredExpression group BEFREE This observation suggests that patients with CGD may also have a defect in lymphocyte function. p47 protein and mRNA levels increase during retinoic acid-induced neutrophil differentiation of HL60 cells. 2398896 1990