Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Filaggrin compound heterozygous patients carry mutations in trans position. 23947670

2013
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Interplay of filaggrin loss-of-function variants, allergic sensitization, and eczema in a longitudinal study covering infancy to 18 years of age. 22403702

2012
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. 21514438

2011
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis. 19874431

2010
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. 19501237

2009
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure. 19839980

2009
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. 18325573

2008
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. 17030239

2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. 16815158

2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. 16550169

2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 CausalMutation CLINVAR Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 16444271

2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		A 0.740 GeneticVariation CLINVAR