Details of Disease

General Information of Disease (ID: DISVKL2V)

Disease Name Heart and brain malformation syndrome
Synonyms heart and brain malformation syndrome; HBMS; heart and brain malformation syndrome; HBMS
Disease Hierarchy
DISYKSRF: Genetic disease
DISVKL2V: Heart and brain malformation syndrome
Disease Identifiers
MONDO ID
MONDO_0014833
UMLS CUI
C4310793
OMIM ID
616920
MedGen ID
934760

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
SMG9 OT172Y2R Strong Autosomal recessive [1]
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References

1 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. Am J Hum Genet. 2016 Apr 7;98(4):643-52. doi: 10.1016/j.ajhg.2016.02.010. Epub 2016 Mar 24.