KRT9, keratin 9, 3857

N. diseases: 30; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE The p.L164P mutation of KRT9 caused EPPK with a novel symptom of palmar constriction. 31525823 2019
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE The current results broaden the spectrum of KRT9 pathogenic variants responsible for EPPK and have important implications for molecular diagnosis, treatment, and genetic counseling for this family. 31074163 2019
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 Biomarker disease BEFREE Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma. 30666268 2018
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE The keratin 9 gene (KRT9) and less frequently the keratin 1 gene (KRT1) are responsible for EPPK. 29719290 2018
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE We performed CRISPR/Cas9-mediated treatment on a knockin (KI) transgenic mouse model that carried a small indel heterozygous mutation of Krt9, c.434delAinsGGCT (p.Tyr144delinsTrpLeu), which caused a humanized EPPK-like phenotype. 30195761 2018
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma. 27726289 2017
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE KRT9 (NM_000226.3:c.487C>T, p.Arg163Trp), and KRT15 (XM_005257346.1:c.212G>T, XP_005257403.1:p.Gly71Val) located in this region, have been identified as two candidate causative genes for EPPK in the Uygur family. 27864007 2016
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE In the present study, we performed amniotic fluid-DNA-based prenatal testing for three at-risk pregnant EPPK women from three unrelated southern Chinese families who carried the KRT9 missense mutations p.Arg163Trp and p.Arg163Gln, and successfully helped two families to bear normal daughters. 24862219 2014
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma. 23278372 2014
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GermlineCausalMutation disease ORPHANET A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review. 24899405 2014
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE We described a four-generation family with EPPK and identified a p.R163W mutation of KRT9. 25299193 2014
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE Epidermolytic palmoplantar keratoderma (EPPK) is caused by mutations in KRT9 and less often, KRT1. 23397986 2013
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GermlineCausalMutation disease ORPHANET Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. 23397986 2013
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE We have developed a broad preclinical RNAi-based therapeutic package for EPPK containing generic KRT9 siRNAs and allele-specific siRNAs for four prevalent mutations. 22402445 2012
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE We suggest that the frequency of p.R163W in Chinese EPPK patients (31.03%) is consistent with that in the general population (29.33%), and that codon 163 is truly a hotspot mutational site of KRT9. 22262370 2012
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease UNIPROT We speculated that KRT9 plays a complicated role in the genesis of EPPK with knuckle pads and camptodactyly, which needs to be further investigated. 21715251 2012
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 Biomarker disease BEFREE We speculated that KRT9 plays a complicated role in the genesis of EPPK with knuckle pads and camptodactyly, which needs to be further investigated. 21715251 2012
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 Biomarker disease GENOMICS_ENGLAND Vörner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation. 21410681 2011
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE Mutations in the keratin 9 gene (KRT9) have been shown to cause epidermolytic palmoplantar keratoderma (EPPK; OMIM 144200), an autosomal dominant genodermatosis characterized clinically by diffuse hyperkeratosis limited to the palms and soles, and histologically by epidermolysis in suprabasal layers of the epidermis. 19874353 2010
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease UNIPROT A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. 20964665 2010
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease UNIPROT Mutations in the keratin 9 gene (KRT9) have been shown to cause epidermolytic palmoplantar keratoderma (EPPK; OMIM 144200), an autosomal dominant genodermatosis characterized clinically by diffuse hyperkeratosis limited to the palms and soles, and histologically by epidermolysis in suprabasal layers of the epidermis. 19874353 2010
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE Epidermolytic PalmoPlantar keratoderma (EPPK) Vörner-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene. 19106041 2009
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. 17362238 2009
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease BEFREE The finding of the same mutation in all available patients, together with the previous reports of the disease, strongly suggested that position 161 of the KRT9 gene also represents a mutation "hotspot" for EPPK. 18573708 2008
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation disease UNIPROT A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma. 16961539 2006