DisGeNET - a database of gene-disease associations

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Secondary malignant neoplasm of liver

CUI:	C0494165
Disease:	Secondary malignant neoplasm of liver

0.010

GeneticVariation

BEFREE

L747P (2239-2240 TT>CC) in exon 19 is a rare EGFR mutation that appears to lead to gefitinib resistance and might accelerate liver metastases.

2015