Details of Disease | DrugMAP

General Information of Disease (ID: DISXFSMM)

Disease Name	Erythrokeratodermia variabilis et progressiva 7
Synonyms	EKVP7; erythrokeratodermia variabilis et progressiva 7
Disease Hierarchy	DIS4BMUQ: Erythrokeratodermia variabilis DISXFSMM: Erythrokeratodermia variabilis et progressiva 7
Disease Identifiers	MONDO ID MONDO_0030941 UMLS CUI C5543106 OMIM ID 619209 MedGen ID 1780408

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
PERP	OTP0YL53	Strong	Autosomal recessive	[1]
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References

1	Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol. 2019 Feb;139(2):380-390. doi: 10.1016/j.jid.2018.08.026. Epub 2018 Oct 12.