Details of Disease

General Information of Disease (ID: DISZTKRJ)

Disease Name Noonan syndrome 14
Synonyms Noonan syndrome 14; NS14
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DISZTKRJ: Noonan syndrome 14
Disease Identifiers
MONDO ID
MONDO_0030679
UMLS CUI
C5676916
OMIM ID
619745
MedGen ID
1807988

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
SPRED2 OTUX685J Strong Autosomal recessive [1]
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References

1 SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. Am J Hum Genet. 2021 Nov 4;108(11):2112-2129. doi: 10.1016/j.ajhg.2021.09.007. Epub 2021 Oct 8.