Details of Disease

General Information of Disease (ID: DISL30XH)

Disease Name Noonan syndrome 9
Synonyms Noonan syndrome 9; Noonan syndrome type 9; Noonan syndrome caused by mutation in SOS2; NS9; SOS2 Noonan syndrome
Definition Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DISL30XH: Noonan syndrome 9
Disease Identifiers
MONDO ID
MONDO_0014691
UMLS CUI
C4225282
OMIM ID
616559
MedGen ID
896352

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
SOS2 OTV3XRE5 Definitive Autosomal dominant [1]
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References

1 Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3.