Details of Disease | DrugMAP

General Information of Disease (ID: DISYUQOY)

Disease Name	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Synonyms	PPKNEFD; autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering; palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Disease Hierarchy	DISRA08K: Hereditary palmoplantar keratoderma DISYUQOY: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Disease Identifiers	MONDO ID MONDO_0014327 UMLS CUI C3810394 OMIM ID 615735 MedGen ID 816724 Orphanet ID 402003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT6C	OT9RXMPK	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.