KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		0.700 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. 21160496 2011
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		0.700 Biomarker disease GENOMICS_ENGLAND Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 7539673 1995
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		0.700 GeneticVariation disease UNIPROT Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. 8595410 1995
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		0.700 CausalMutation disease CLINVAR
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		0.700 Biomarker disease CTD_human