Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.790 GeneticVariation BEFREE Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. 19213871

2009
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.790 GeneticVariation BEFREE Secondly, considering the alternative possibility, we identified genes whose DNA hypermethylation was closely linked to BRAF(V600E) and CIMP in 235 primary colorectal tumors. 20027224

2009
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.790 CausalMutation CLINVAR Clinical biomarkers in oncology: focus on colorectal cancer. 19537845

2009
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.790 CausalMutation CLINVAR Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. 19001320

2008
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.790 GeneticVariation BEFREE Rac1b overexpression and B-Raf(V600E) are significantly associated in primary colorectal tumors (P = .008) and colorectal cell lines. 18602919

2008
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.790 GeneticVariation BEFREE In addition, a significant association between mismatch-repair (MMR) deficiency and the V599E mutation in colorectal tumors has been found. 14654916

2004
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.790 GeneticVariation BEFREE Recently, a V599E hotspot mutation within the BRAF gene was reported in a high percentage of colorectal tumors and significantly associated to defective mismatch repair (MMR). 14668801

2003
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.790 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002