Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 GeneticVariation UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		G 0.800 CausalMutation CLINVAR Epigenetic-genetic interactions in the APC/WNT, RAS/RAF, and P53 pathways in colorectal carcinoma. 18451217

2008
dbSNP: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 GeneticVariation UNIPROT Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		G 0.800 CausalMutation CLINVAR Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer. 17496923

2007
dbSNP: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		G 0.800 CausalMutation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924

2007
dbSNP: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		G 0.800 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: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 GeneticVariation UNIPROT Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		G 0.800 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs397507473
rs397507473
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 GeneticVariation UNIPROT Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006