Details of Disease | DrugMAP

General Information of Disease (ID: DIS8JGKH)

Disease Name	Erythrokeratodermia variabilis et progressiva 3
Synonyms	EKVP3; erythrokeratodermia variabilis ET progressiva 3
Disease Hierarchy	DIS4BMUQ: Erythrokeratodermia variabilis DIS8JGKH: Erythrokeratodermia variabilis et progressiva 3
Disease Identifiers	MONDO ID MONDO_0033013 UMLS CUI C4479619 OMIM ID 617525 MedGen ID 1380593

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
GJA1	TT4F7SL	Strong	Autosomal dominant	[1]
GJA1	TT4F7SL	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
GJA1	OTT94MKL	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	Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.