rs80338796, RAF1

N. diseases: 37
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 Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 25706034 2015
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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007