Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022579
Disease: Keratoderma
Keratoderma
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