Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006