KRT6C, keratin 6C, 286887

N. diseases: 14; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.700 GeneticVariation disease UNIPROT Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. 23662636 2013
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.700 GermlineCausalMutation disease ORPHANET Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. 21801157 2011
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.700 GeneticVariation disease UNIPROT Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. 21801157 2011
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.700 GermlineCausalMutation disease ORPHANET Keratin K6c mutations cause focal palmoplantar keratoderma. 19609311 2010
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.700 Biomarker disease GENOMICS_ENGLAND Keratin K6c mutations cause focal palmoplantar keratoderma. 19609311 2010
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.700 GeneticVariation disease UNIPROT Keratin K6c mutations cause focal palmoplantar keratoderma. 19609311 2010
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.700 CausalMutation disease CLINVAR
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.700 Biomarker disease CTD_human
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.410 GeneticVariation disease BEFREE These findings strongly suggest that screening of patients with nonepidermolytic diffuse PPK, in whom the pathogenic mutations are yet to be determined, might identify mutations in KRT6C. 21801157 2011
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.410 Biomarker disease HPO
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.300 Biomarker disease GENOMICS_ENGLAND Keratin K6c mutations cause focal palmoplantar keratoderma. 19609311 2010
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.200 Biomarker phenotype RGD Discriminating between adaptive and carcinogenic liver hypertrophy in rat studies using logistic ridge regression analysis of toxicogenomic data: The mode of action and predictive models. 28108177 2017
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.200 Biomarker phenotype CTD_rat Discriminating between adaptive and carcinogenic liver hypertrophy in rat studies using logistic ridge regression analysis of toxicogenomic data: The mode of action and predictive models. 28108177 2017
CUI: C0221270
Disease: Acanthosis
Acanthosis 		0.100 Biomarker phenotype HPO
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		0.100 CausalMutation disease CLINVAR
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita 		0.040 GeneticVariation disease BEFREE Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of 5 keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). 31823354 2020
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita 		0.040 GeneticVariation disease BEFREE Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of 5 keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17) featuring painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis, and often oral leukokeratosis. 31777952 2020
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita 		0.040 GeneticVariation disease BEFREE Finally, this PC-associated substitution as well as more frequent caries-associated SNPs, found in two of the KRT6 genes, that result in rs28538343" genes_norm="286887;3854;3868">p.Ser143Asn substitution (rs28538343 in KRT6B and rs151117600 in KRT6C), alter the assembly of K6 filaments in ameloblast-like cells. 29357356 2018
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita 		0.040 GeneticVariation disease BEFREE Twenty years have elapsed since keratin mutations were linked to cutaneous genodermatoses, and we now know that they cause 40 different genetic disorders.In this issue, Wilson et al. have identified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one family has nail involvement. 20081885 2010
CUI: C2931923
Disease: Hyperkeratosis of the palms and soles and esophageal papillomas
Hyperkeratosis of the palms and soles and esophageal papillomas 		0.030 GeneticVariation disease BEFREE Recently, mutations of KRT6C were identified in families with focal PPK alone. 23662636 2013
CUI: C2931923
Disease: Hyperkeratosis of the palms and soles and esophageal papillomas
Hyperkeratosis of the palms and soles and esophageal papillomas 		0.030 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: C2931923
Disease: Hyperkeratosis of the palms and soles and esophageal papillomas
Hyperkeratosis of the palms and soles and esophageal papillomas 		0.030 GeneticVariation disease BEFREE Twenty years have elapsed since keratin mutations were linked to cutaneous genodermatoses, and we now know that they cause 40 different genetic disorders.In this issue, Wilson et al. have identified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one family has nail involvement. 20081885 2010
CUI: C0011334
Disease: Dental caries
Dental caries 		0.010 GeneticVariation disease BEFREE Using genetic and intraoral examination data from 573 adults and 449 children, we identified several missense polymorphisms in KRT6A, KRT6B and KRT6C that lead to a higher risk for dental caries. 29357356 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 AlteredExpression disease BEFREE KRT5 and KRT6 (KRT6A, KRT6B & KRT6C) gene expression was assessed in publically available serous ovarian cancer data sets, ovarian cancer cell lines and primary serous ovarian cancer cells. 28147318 2017