Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C0343110
Disease: Epidermolytic palmoplantar keratoderma of Vorner
Epidermolytic palmoplantar keratoderma of Vorner 		0.300 GermlineCausalMutation ORPHANET A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review. 24899405

2014
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C0343110
Disease: Epidermolytic palmoplantar keratoderma of Vorner
Epidermolytic palmoplantar keratoderma of Vorner 		0.300 GermlineCausalMutation ORPHANET Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. 23397986

2013
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C0343110
Disease: Epidermolytic palmoplantar keratoderma of Vorner
Epidermolytic palmoplantar keratoderma of Vorner 		0.300 GermlineCausalMutation ORPHANET Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. 12072061

2002
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
CUI: C0343110
Disease: Epidermolytic palmoplantar keratoderma of Vorner
Epidermolytic palmoplantar keratoderma of Vorner 		0.300 GermlineCausalMutation ORPHANET Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. 12192490

2002