Details of Disease

General Information of Disease (ID: DISYU6FG)

Disease Name Buratti-Harel syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISYU6FG: Buratti-Harel syndrome
Disease Identifiers
MONDO ID
MONDO_0859144
UMLS CUI
C5543351
OMIM ID
619314
MedGen ID
1788293

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
SIAH1 OT29A838 Strong Autosomal dominant [1]
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References

1 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.