KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.140 Biomarker disease BEFREE There are three main stages of progression of PPK-like lesions in Krt16 null mice. 31021398 2020
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.140 GeneticVariation disease BEFREE Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. 29406601 2018
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.140 Biomarker disease BEFREE Topical application of the NRF2 activator sulforaphane to the footpad of Krt16-/- mice prevented the development of PPK and normalized redox balance via regeneration of GSH from existing cellular pools. 27183391 2016
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.140 GeneticVariation disease BEFREE Our cases for comparison included 4 cases with Mal de Meleda PPK associated with autosomal-recessive SLURP1 mutations, one case with pachyonychia congenita type II PPK associated with an autosomal-dominant KRT17 mutation, and one case with focal PPK associated with an autosomal-dominant KRT16 mutation. 20082890 2010
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.140 Biomarker disease HPO