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.