KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Disease: Dystrophia unguium ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.120 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: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.120 Biomarker disease BEFREE Mutations in the type I keratin 16 (Krt16) and its partner type II keratin 6 (Krt6a, Krt6b) cause pachyonychia congenita (PC), a disorder typified by dystrophic nails, painful hyperkeratotic calluses in glabrous skin, and lesions involving other epithelial appendages. 24218583 2013
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.120 Biomarker disease HPO