EFS, embryonal Fyn-associated substrate, 10278

N. diseases: 75; N. variants: 3
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 Biomarker group BEFREE Finally, we proved that the NADPH oxidase is not active in the T cell compartment even when forcing gp91phox expression transducing T cells from X-CGD and HD with a SIN lentiviral vector (LVV) encoding the gp91phox cDNA. 29410324 2018
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.020 GeneticVariation group BEFREE These results indicate that the miR223 promoter as an internal promoter within SIN gene therapy vectors is able to efficiently correct the CGD phenotype with negligible activity in hematopoietic progenitors, thereby limiting the risk of insertional oncogenesis and development of clonal dominance. 23489116 2013