Details of Disease

General Information of Disease (ID: DISDJW78)

Disease Name UV-sensitive syndrome 3
Synonyms UVSS3; UV-sensitive syndrome type 3; UVSSA UV-sensitive syndrome; UV-sensitive syndrome 3; UV-sensitive syndrome caused by mutation in UVSSA
Definition Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.
Disease Hierarchy
DISHCN4B: UV-sensitive syndrome
DISDJW78: UV-sensitive syndrome 3
Disease Identifiers
MONDO ID
MONDO_0013834
UMLS CUI
C3553328
OMIM ID
614640
MedGen ID
766242

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
UVSSA OTQQMO1T Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.