DisGeNET - a database of gene-disease associations

ERCC2, ERCC excision repair 2, TFIIH core complex helicase subunit, 2068

N. diseases: 499; N. variants: 72

Disease: progesterone receptor-negative breast cancer ×

Variant: rs1799793 ×

Source: ALL

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:

rs1799793

rs1799793

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C4733093
Disease:

progesterone receptor-negative breast cancer

0.010

GeneticVariation

BEFREE

ERCC2-rs1799793-AA genotype correlated with ER+ and PR+ breast cancer.

2018