rs80338796, RAF1

N. diseases: 37
Disease: LEOPARD SYNDROME 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
0.800 CausalMutation CLINVAR