Details of Disease | DrugMAP

General Information of Disease (ID: DISLV4SZ)

Disease Name	Erythrokeratodermia variabilis et progressiva 2
Synonyms	erythrokeratodermia variabilis ET progressiva 2; EKVP2
Disease Hierarchy	DIS4BMUQ: Erythrokeratodermia variabilis DISLV4SZ: Erythrokeratodermia variabilis et progressiva 2
Disease Identifiers	MONDO ID MONDO_0033012 UMLS CUI C4479618 OMIM ID 617524 MedGen ID 1379712

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB4	TTBRDFI	Strong	Autosomal dominant	[1]
GJB4	TTBRDFI	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB4	OTEGZVNG	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.
2	Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. Acta Derm Venereol. 2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436.