Details of Disease

General Information of Disease (ID: DISUQMTP)

Disease Name Noonan syndrome 11
Synonyms NS11; NOONAN SYNDROME 11
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DISUQMTP: Noonan syndrome 11
Disease Identifiers
MONDO ID
MONDO_0032786
UMLS CUI
C5193130
OMIM ID
618499
MedGen ID
1681177

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
MRAS OTNCVCQW Definitive Autosomal dominant [1]
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References

1 Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. Am J Med Genet A. 2019 Aug;179(8):1628-1630. doi: 10.1002/ajmg.a.61261. Epub 2019 Jun 7.