Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 23885229 2013
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Mast cell lineage diversion of T lineage precursors by the essential T cell transcription factor GATA-3. 17603486 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 GeneticVariation CLINVAR Selective loading of high-affinity peptides onto major histocompatibility complex class I molecules by the tapasin-ERp57 heterodimer. 17603487 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 GeneticVariation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR