Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177034
rs180177034
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. 20523244 2011
dbSNP: rs180177034
rs180177034
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719 2008
dbSNP: rs180177034
rs180177034
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
dbSNP: rs180177034
rs180177034
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260 2007
dbSNP: rs180177034
rs180177034
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006