Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177036
rs180177036
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors. 18953432 2008
dbSNP: rs180177036
rs180177036
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
dbSNP: rs180177036
rs180177036
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235 2007
dbSNP: rs180177036
rs180177036
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
dbSNP: rs180177036
rs180177036
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
dbSNP: rs180177036
rs180177036
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
dbSNP: rs180177036
rs180177036
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006