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LEOPARD syndrome 2; LPRD2

Disease ID:540
Name:LEOPARD syndrome 2; LPRD2
Associated with:1 target
LEOPARD syndrome
Database Links
Disease Ontology: DOID:14291
OMIM: 611554
Orphanet: ORPHA500


Raf-1 proto-oncogene, serine/threonine kinase
References:  1
Mutations:  Raf-1 proto-oncogene, serine/threonine kinase is associated with 2 mutation. Click here for details


No ligand related data available for LEOPARD syndrome 2; LPRD2


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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]