rs145360423, NCF1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
CUI: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
0.700 CausalMutation CLINVAR Clinical and molecular findings of chronic granulomatous disease in Oman: family studies. 24446915 2015
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.700 CausalMutation CLINVAR
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
0.030 GeneticVariation BEFREE In Kavkazi Jews, a c.579G>A (p.Trp193Ter) mutation in <i>NCF1</i> is frequently found, leading to CGD. 29331982 2018
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
0.030 GeneticVariation BEFREE Genetically confirmed individuals included 1 patient with XL-CGD (a large deletion involving the CYBB and XK genes resulting in a McLeod phenotype), 27 patients with AR-CGD with a c.579G>A (p.Trp193X) mutation at the NCF1 gene, and 4 patients with AR-CGD with a c.784G>A (p.Gly262Ser) mutation at the NCF1 gene. 29947158 2018
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
0.030 GeneticVariation BEFREE Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A). 29411231 2018