rs180177039, BRAF

N. diseases: 12
Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 GeneticVariation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235 2007
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577 2007
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 GeneticVariation 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
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006