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: rs140522180 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs140522180

1.000

0.160

45353112

missense variant

C/A;T

snv

2.0E-05; 1.9E-04

CUI:	C0268138
Disease:	Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Complementation Group D

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases

0.700