Noonan syndrome 5; NS5

Disease ID:698
Name:Noonan syndrome 5; NS5
Associated with:1 target
Synonyms
Noonan syndrome
Database Links
Disease Ontology: DOID:3490
OMIM: 611553
Orphanet: ORPHA648

Targets

Raf-1 proto-oncogene, serine/threonine kinase
References:  1-2

Ligands

No ligand related data available for Noonan syndrome 5; NS5

References

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1. Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A et al.. (2007) Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat. Genet., 39 (8): 1007-12. [PMID:17603483]

2. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M et al.. (2007) Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat. Genet., 39 (8): 1013-7. [PMID:17603482]