rs121913369, BRAF

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NOONAN SYNDROME 7
CUI: C3150970
Disease: NOONAN SYNDROME 7
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
NOONAN SYNDROME 7
CUI: C3150970
Disease: NOONAN SYNDROME 7
0.800 GeneticVariation UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
NOONAN SYNDROME 7
CUI: C3150970
Disease: NOONAN SYNDROME 7
0.800 CausalMutation CLINVAR
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300 2013
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.700 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300 2013
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. 23715574 2013
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292 2012
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. 22892241 2012
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 CausalMutation CLINVAR The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. 22892241 2012
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.700 CausalMutation CLINVAR BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. 22798288 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. 22892241 2012
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091 2012
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. 22798288 2012
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091 2012
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.700 CausalMutation CLINVAR Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. 21483012 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. 21483012 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.700 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009