Gene: RAF1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.770 CausalMutation disease CLINVAR Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 25706034 2015
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.770 CausalMutation disease 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
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.770 CausalMutation disease CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.770 CausalMutation disease CLINVAR Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling. 19933846 2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.770 CausalMutation disease CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.770 CausalMutation disease CLINVAR Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2. 17603483 2007