EGF, epidermal growth factor, 1950

N. diseases: 774; N. variants: 33
Disease: Primary malignant neoplasm of lung ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1436919825
rs1436919825
Entrez Id: 1950
Gene Symbol: EGF
EGF
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE We describe how an uncharacterized lung cancer mutation in this JM activation domain (V665M) constitutively activates EGFR by augmenting its capacity to act as an acceptor in the asymmetric dimer. 19560417 2009