Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2312
Gene Symbol: FLG
FLG
0.010 AlteredExpression disease BEFREE The TAM67-positive epidermis displays keratinocyte hyperproliferation, hyperkeratosis and parakeratosis, delayed differentiation, extensive subdermal vasodilation, nuclear loricrin localization, tail and digit pseudoainhum and reduced filaggrin level. 28569792 2017
Entrez Id: 4017
Gene Symbol: LOXL2
LOXL2
0.010 GeneticVariation disease BEFREE No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum. 24962725 2014
Entrez Id: 4014
Gene Symbol: LORICRIN
LORICRIN
0.010 GeneticVariation disease BEFREE No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum. 24962725 2014
Entrez Id: 110006328
Gene Symbol: ERVK-32
ERVK-32
0.010 Biomarker disease BEFREE A mutation in the glycine-rich cornified envelope protein loricrin has recently been reported in Vohwinkel's keratoderma (honeycomb keratoderma with pseudoainhum), in a pedigree amongst whom ichthyosis was also a feature. 9326398 1997
Entrez Id: 64006
Gene Symbol: ERVK-6
ERVK-6
0.010 Biomarker disease BEFREE A mutation in the glycine-rich cornified envelope protein loricrin has recently been reported in Vohwinkel's keratoderma (honeycomb keratoderma with pseudoainhum), in a pedigree amongst whom ichthyosis was also a feature. 9326398 1997