Details of Disease

General Information of Disease (ID: DISTDKUR)

Disease Name Noonan syndrome 2
Synonyms autosomal recessive Noonan syndrome; Noonan syndrome autosomal recessive; Noonan syndrome, autosomal recessive; Noonan syndrome 2; Noonan syndrome type 2; NS2
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DISTDKUR: Noonan syndrome 2
Disease Identifiers
MONDO ID
MONDO_0011531
MESH ID
C548081
UMLS CUI
C1854469
OMIM ID
605275
MedGen ID
344290

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BANF1 OTP7Z38L Strong Biomarker [1]
LZTR1 OTIDM6XO Strong Autosomal recessive [2]
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References

1 A Recombinant Respiratory Syncytial Virus Vaccine Candidate Attenuated by a Low-Fusion F Protein Is Immunogenic and Protective against Challenge in Cotton Rats.J Virol. 2016 Jul 27;90(16):7508-7518. doi: 10.1128/JVI.00012-16. Print 2016 Aug 15.
2 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.