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: Xeroderma Pigmentosum, Complementation Group D ×

Variant: rs755174338 ×

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:

rs755174338

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.010

GeneticVariation

BEFREE

Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome.

26482462

2016