rs387906485, CYBB

N. diseases: 1
Disease: Granulomatous Disease, Chronic, X-Linked ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Granulomatous Disease, Chronic, X-Linked
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
0.700 CausalMutation CLINVAR Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease. 23193493 2012
Granulomatous Disease, Chronic, X-Linked
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
0.700 CausalMutation CLINVAR Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease. 19483051 2009
Granulomatous Disease, Chronic, X-Linked
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
0.700 CausalMutation CLINVAR Improved superoxide-generating ability by interferon gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene. 11435314 2001
Granulomatous Disease, Chronic, X-Linked
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
0.700 CausalMutation CLINVAR X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. 9585602 1998