KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT A new KRT16 mutation associated with a phenotype of pachyonychia congenita. 24118415 2013
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease BEFREE Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK). 22668561 2013
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK). 22668561 2013
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. 21160496 2011
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. 21160496 2011
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 17719747 2007
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT The genetic basis of pachyonychia congenita. 16250206 2005
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. 11359398 2001
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 11886499 2001
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT We have previously shown that mutations in keratin 16 (K16) cause fragility of specific epithelia resulting in phenotypes of PC-1 or FNEPPK alone. 10839714 2000
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease BEFREE We have previously shown that mutations in keratin 16 (K16) cause fragility of specific epithelia resulting in phenotypes of PC-1 or FNEPPK alone. 10839714 2000
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 Biomarker disease BEFREE Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis. 10232400 1999
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease BEFREE Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. 10606845 1999
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. 10606845 1999
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 Biomarker disease BEFREE Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. 10521820 1999
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT This work will greatly improve K16 mutation analysis and allow predictive testing for PC-1 and the related phenotype of FNEPPK. 10521820 1999
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 Biomarker disease GENOMICS_ENGLAND Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 7539673 1995
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease UNIPROT Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 7539673 1995
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 Biomarker disease MGD
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 GeneticVariation disease CLINVAR
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 Biomarker disease CTD_human
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 CausalMutation disease CLINVAR