EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE Therefore, EGFR L858R mutation and exon 19 deletion may not be identical disease entity from the point of carcinogenesis. 26645716 2016
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE Therefore, EGFR L858R mutation and exon 19 deletion may not be identical disease entity from the point of carcinogenesis. 26645716 2016
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE Therefore, EGFR L858R mutation and exon 19 deletion may not be identical disease entity from the point of carcinogenesis. 26645716 2016
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE These results identify a novel link between the p14(ARF) and EGFR pathways and suggest that EGFR L858R counteracts the pro-apoptotic function of p14(ARF) by downregulating its expression to promote carcinogenesis. 22450744 2013
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE These results identify a novel link between the p14(ARF) and EGFR pathways and suggest that EGFR L858R counteracts the pro-apoptotic function of p14(ARF) by downregulating its expression to promote carcinogenesis. 22450744 2013
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE These results identify a novel link between the p14(ARF) and EGFR pathways and suggest that EGFR L858R counteracts the pro-apoptotic function of p14(ARF) by downregulating its expression to promote carcinogenesis. 22450744 2013
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE Genetic analysis suggested that the specific EGFR mutation L858R in exon 21 might be the main factor contributing to lung carcinogenesis in multiple lung cancers. 22733594 2012
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE Genetic analysis suggested that the specific EGFR mutation L858R in exon 21 might be the main factor contributing to lung carcinogenesis in multiple lung cancers. 22733594 2012
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE Genetic analysis suggested that the specific EGFR mutation L858R in exon 21 might be the main factor contributing to lung carcinogenesis in multiple lung cancers. 22733594 2012
dbSNP: rs780439043
rs780439043
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE This study investigated regulators of mutant TP53 (R248Q) in basal-like TNBC and their impact on tumorigenesis. 30349649 2018
dbSNP: rs146795390
rs146795390
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE The V843I mutation contributes to tumorigenesis by promoting phosphorylation of EGFR and its downstream signaling proteins. 25057940 2014