Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3857
Gene Symbol: KRT9
KRT9 		0.300 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
Entrez Id: 3857
Gene Symbol: KRT9
KRT9 		0.300 GermlineCausalMutation disease ORPHANET Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. 23397986 2013
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		0.300 GermlineCausalMutation disease ORPHANET "Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with ""tonotubular"" keratin." 16439967 2006
Entrez Id: 3857
Gene Symbol: KRT9
KRT9 		0.300 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
Entrez Id: 3857
Gene Symbol: KRT9
KRT9 		0.300 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
Entrez Id: 3868
Gene Symbol: KRT16
KRT16 		0.300 GeneticVariation disease ORPHANET Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. 8595410 1995