KRT6C, keratin 6C, 286887

N. diseases: 14; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777292
rs587777292
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
CUI: C3810394
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.800 GeneticVariation UNIPROT Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. 23662636 2013
dbSNP: rs587777292
rs587777292
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
CUI: C3810394
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.800 GeneticVariation UNIPROT Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. 21801157 2011
dbSNP: rs587777292
rs587777292
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
CUI: C3810394
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.800 GeneticVariation UNIPROT Keratin K6c mutations cause focal palmoplantar keratoderma. 19609311 2010
dbSNP: rs587777292
rs587777292
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
CUI: C3810394
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607474
rs267607474
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
CUI: C4552049
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267607475
rs267607475
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
CUI: C4552049
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1255098084
rs1255098084
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
CUI: C0265334
Disease:
Pachyonychia Congenita 		0.010 GeneticVariation BEFREE Structural analysis of teeth from a PC patient carrying a p.Asn171Lys substitution in keratin-6a (K6a) revealed disruption of enamel rod sheaths resulting in altered rod shape and distribution. 29357356 2018