KRT9, keratin 9, 3857

N. diseases: 30; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59616921
rs59616921
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.860 GeneticVariation BEFREE Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation. 27864007 2016
dbSNP: rs59616921
rs59616921
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.860 GeneticVariation BEFREE Our findings indicate that knuckle pads can be associated with EPPK and the R163W mutation in a family with a genetic background different from that described here. 23278372 2014
dbSNP: rs59616921
rs59616921
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.860 GeneticVariation BEFREE We described a four-generation family with EPPK and identified a p.R163W mutation of KRT9. 25299193 2014
dbSNP: rs59616921
rs59616921
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.860 GeneticVariation 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
dbSNP: rs59616921
rs59616921
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.860 GeneticVariation BEFREE We present three unrelated Italian families affected by EPPK in which we confirmed the presence of the R162W mutation, by RT-PCR analysis followed by sequencing of the KRT9 gene, in all affected members. 15564199 2005
dbSNP: rs59616921
rs59616921
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.860 GeneticVariation BEFREE Mutations of this arginine codon (R162W, R162Q) are common in pedigrees with EPPK. 14517588 2003
dbSNP: rs59616921
rs59616921
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.860 GeneticVariation UNIPROT
dbSNP: rs59616921
rs59616921
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		A 0.860 CausalMutation CLINVAR
dbSNP: rs56707768
rs56707768
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.830 GeneticVariation BEFREE Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma. 18573708 2008
dbSNP: rs56707768
rs56707768
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.830 GeneticVariation BEFREE Here we demonstrate a novel mutation of N160H (position 8 of the 1 A domain) and two other previously reported mutations, R162W and N160S, in five unrelated Korean families with EPPK. 14675368 2003
dbSNP: rs56707768
rs56707768
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.830 GeneticVariation BEFREE A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma. 12532041 2002
dbSNP: rs56707768
rs56707768
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		C 0.830 CausalMutation CLINVAR
dbSNP: rs56707768
rs56707768
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.830 GeneticVariation UNIPROT
dbSNP: rs59296273
rs59296273
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.820 GeneticVariation BEFREE A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma. 15115518 2004
dbSNP: rs59296273
rs59296273
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.820 GeneticVariation BEFREE Here we demonstrate a novel mutation of N160H (position 8 of the 1 A domain) and two other previously reported mutations, R162W and N160S, in five unrelated Korean families with EPPK. 14675368 2003
dbSNP: rs59296273
rs59296273
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.820 GeneticVariation UNIPROT
dbSNP: rs59296273
rs59296273
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		A 0.820 CausalMutation CLINVAR
dbSNP: rs28940896
rs28940896
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation UNIPROT Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. 19874353 2010
dbSNP: rs28940896
rs28940896
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation UNIPROT A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. 20964665 2010
dbSNP: rs57019720
rs57019720
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation UNIPROT Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. 19874353 2010
dbSNP: rs57019720
rs57019720
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation UNIPROT A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. 20964665 2010
dbSNP: rs57536312
rs57536312
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation UNIPROT Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. 19874353 2010
dbSNP: rs57536312
rs57536312
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation UNIPROT A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. 20964665 2010
dbSNP: rs61157095
rs61157095
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation UNIPROT Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. 19874353 2010
dbSNP: rs61157095
rs61157095
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C1721006
Disease:
Keratoderma, Palmoplantar, Epidermolytic 		0.800 GeneticVariation UNIPROT A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. 20964665 2010