KRT9, keratin 9, 3857

N. diseases: 30; N. variants: 14
Disease: Epidermolytic palmoplantar keratoderma Vorner type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931735
Disease: Epidermolytic palmoplantar keratoderma Vorner type
Epidermolytic palmoplantar keratoderma Vorner type 		0.500 GermlineCausalMutation disease ORPHANET Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. 23397986 2013
CUI: C2931735
Disease: Epidermolytic palmoplantar keratoderma Vorner type
Epidermolytic palmoplantar keratoderma Vorner type 		0.500 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: C2931735
Disease: Epidermolytic palmoplantar keratoderma Vorner type
Epidermolytic palmoplantar keratoderma Vorner type 		0.500 GermlineCausalMutation disease ORPHANET Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. 12072061 2002
CUI: C2931735
Disease: Epidermolytic palmoplantar keratoderma Vorner type
Epidermolytic palmoplantar keratoderma Vorner type 		0.500 GermlineCausalMutation disease ORPHANET Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. 12192490 2002
CUI: C2931735
Disease: Epidermolytic palmoplantar keratoderma Vorner type
Epidermolytic palmoplantar keratoderma Vorner type 		0.500 Biomarker disease CTD_human