Details of Disease | DrugMAP

General Information of Disease (ID: DISDFUZH)

Disease Name	Shashi-Pena syndrome
Synonyms	SHAPNS; Shashi-Pena syndrome; SHAPNS; Shashi-Pena syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISDFUZH: Shashi-Pena syndrome
Disease Identifiers	MONDO ID MONDO_0014963 UMLS CUI C4310672 OMIM ID 617190 MedGen ID 934639

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
ASXL2	OTNG4E2M	Strong	Autosomal dominant	[1]
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References

1	De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29.