Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507476
rs397507476
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.700 GeneticVariation UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
dbSNP: rs397507476
rs397507476
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.700 GeneticVariation UNIPROT Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
dbSNP: rs397507476
rs397507476
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.700 GeneticVariation UNIPROT Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
dbSNP: rs397507476
rs397507476
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.700 GeneticVariation UNIPROT Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006