rs80338797, RAF1

N. diseases: 7
Disease: Noonan Syndrome 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
0.800 CausalMutation CLINVAR