Condition: Erythema


rs1135401778 in BPTF gene and Erythema PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs61816761 in FLG;FLG-AS1 gene and Erythema PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

PMID 17030239 2006 Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

PMID 16550169 2006 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.

PMID 16815158 2006 Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.

rs63750687 in PSEN1 gene and Erythema PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.