Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
0.700 SusceptibilityMutation CLINVAR
Ichthyosis Vulgaris
CUI: C0079584
Disease: Ichthyosis Vulgaris
0.700 CausalMutation CLINVAR
Dermatitis, Atopic
CUI: C0011615
Disease: Dermatitis, Atopic
0.020 GeneticVariation BEFREE Transmission disequilibrium test of 105 AD families showed that the null allele of the S2554X variant of FLG tended to be overtransmitted to AD-affected offspring; however, the P value did not reach statistical significance. 18521703 2008
Eczema
CUI: C0013595
Disease: Eczema
0.020 GeneticVariation BEFREE Transmission disequilibrium test of 105 AD families showed that the null allele of the S2554X variant of FLG tended to be overtransmitted to AD-affected offspring; however, the P value did not reach statistical significance. 18521703 2008
Eczema
CUI: C0013595
Disease: Eczema
0.020 GeneticVariation BEFREE We screened 143 Japanese patients with AD for these FLG null mutations and identified them in 8 patients with AD (5.6%), including S2554X in 6 patients (4.2%) and 3321delA in 2 patients (1.4%). 17291859 2007
Dermatitis, Atopic
CUI: C0011615
Disease: Dermatitis, Atopic
0.020 GeneticVariation BEFREE We screened 143 Japanese patients with AD for these FLG null mutations and identified them in 8 patients with AD (5.6%), including S2554X in 6 patients (4.2%) and 3321delA in 2 patients (1.4%). 17291859 2007