| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. | 17030239 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. | 16444271 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. | 16550169 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. | 16815158 | 2006 |
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|
0.010 | GeneticVariation | BEFREE | Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity. | 31323190 | 2019 |
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|
0.010 | GeneticVariation | BEFREE | Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity. | 31323190 | 2019 |
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|
0.010 | GeneticVariation | BEFREE | Psoriasis, an inflammatory skin disease, was associated with a promoter variant (rs9267502; P = 3.786 × 10(-19)) of LST1 that may regulate immune response and cellular morphogenesis. | 24803336 | 2014 |
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|
0.010 | GeneticVariation | BEFREE | In the absence of IL-17 signaling, IL-22 was the main contributor to skin inflammation, which provides a molecular mechanism for the association of Act1(D10N) with psoriasis susceptibility. | 23202271 | 2013 |
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|
0.010 | GeneticVariation | BEFREE | We report the molecular characterization of a new missense mutation of NEMO (A323P) which causes a severe form of incontinentia pigmenti (OMIM#308300), an inherited disease characterized predominantly by skin inflammation. | 17728323 | 2007 |