Details of Disease

General Information of Disease (ID: DIS5W8Q8)

Disease Name Noonan syndrome 12
Synonyms NS12; NOONAN SYNDROME 12
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DIS5W8Q8: Noonan syndrome 12
Disease Identifiers
MONDO ID
MONDO_0032839
UMLS CUI
C5231432
OMIM ID
618624
MedGen ID
1684730

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
RRAS2 OT83NCEB Strong Autosomal dominant [1]
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References

1 Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Am J Hum Genet. 2019 Jun 6;104(6):1223-1232. doi: 10.1016/j.ajhg.2019.04.013. Epub 2019 May 23.