Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.020 GeneticVariation BEFREE Germline EGFR T790M mutation found in multiple members of a familial cohort. 24736080 2014
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.020 GeneticVariation BEFREE These features are comparable with those in EGFR T790M mutation, suggesting that cases with germ-line V843I or T790M mutations could be categorized as a class of familial lung cancer syndrome with resistance to EGFR-TKIs. 25057940 2014