Details of Disease | DrugMAP

General Information of Disease (ID: DIS044JP)

Disease Name	Porokeratosis 8, disseminated superficial actinic type
Synonyms	POROK8; porokeratosis 8, disseminated superficial actinic type
Disease Hierarchy	DISELZ77: Disseminated superficial actinic porokeratosis DIS044JP: Porokeratosis 8, disseminated superficial actinic type
Disease Identifiers	MONDO ID MONDO_0014479 UMLS CUI C4015128 OMIM ID 616063 MedGen ID 863565

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A9	DT9BI8W	Limited	Autosomal dominant	[1]
SLC17A9	DT9BI8W	moderate	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
SLC17A9	OTF951ZS	Limited	Autosomal dominant	[1]
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References

1	Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. J Med Genet. 2014 Oct;51(10):699-704. doi: 10.1136/jmedgenet-2014-102486. Epub 2014 Sep 1.
2	[Mutation in the SLC17A9 gene in familial superficial actinic disseminated porokeratosis].Ann Dermatol Venereol. 2015 Feb;142(2):155-6. doi: 10.1016/j.annder.2014.12.004. Epub 2015 Jan 14.