rs121913348, BRAF

N. diseases: 20
Disease: Noonan Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
Noonan Syndrome
CUI: C0028326
Disease: Noonan 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
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 GeneticVariation CLINVAR Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. 18060073 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 GeneticVariation CLINVAR Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. 12692057 2003