DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Tumor Progression ×

Variant: rs1057519847 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057519847

rs1057519847

EGFR

CUI:	C0178874
Disease:	Tumor Progression

Tumor Progression

0.010

GeneticVariation

BEFREE

Haploinsufficiency of Nkx2-1 enhanced Kras(G12D)-mediated tumor progression, but reduced EGFR(L858R)-mediated progression.

2012