Details of Disease | DrugMAP

General Information of Disease (ID: DIS0JVUT)

Disease Name	UV-sensitive syndrome 1
Synonyms	UVSS1; UV-sensitive syndrome 1; UV-sensitive syndrome caused by mutation in ERCC6; ERCC6 UV-sensitive syndrome; UV-sensitive syndrome type 1
Definition	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.
Disease Hierarchy	DISHCN4B: UV-sensitive syndrome DIS0JVUT: UV-sensitive syndrome 1
Disease Identifiers	MONDO ID MONDO_0010909 UMLS CUI C3551173 OMIM ID 600630 MedGen ID 764087

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
ERCC6	OT2QZKSF	Strong	Autosomal recessive	[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.