Details of Disease | DrugMAP

General Information of Disease (ID: DIS6CMG5)

Disease Name	VISS syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DIS6CMG5: VISS syndrome
Disease Identifiers	MONDO ID MONDO_0859177 UMLS CUI C5561955 OMIM ID 619472 MedGen ID 1794165

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
IPO8	OTBHGNKT	Strong	Autosomal recessive	[1]
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References

1	A human importin--related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18.