Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Eczema
CUI: C0013595
Disease: Eczema
0.030 GeneticVariation BEFREE We investigated the 4 most prevalent European FLG mutations (c.2282del4, p.R501X, p.R2447X, and p.S3247X) in two samples including 759 and 450 AD families. 25757221 2015
Eczema
CUI: C0013595
Disease: Eczema
0.030 GeneticVariation BEFREE We evaluated a multiyear prospective cohort study of children with AD with respect to FLG null mutations (R501X, 2282del4, R2447X, and S3247X). 22951058 2012
Eczema
CUI: C0013595
Disease: Eczema
0.030 GeneticVariation BEFREE Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis. 19874431 2010