rs80338797, RAF1

N. diseases: 7
Disease: LEOPARD Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757 2010
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling. 19933846 2010
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007