DisGeNET - a database of gene-disease associations

XPA, XPA, DNA damage recognition and repair factor, 7507

N. diseases: 209; N. variants: 53

Disease: Xeroderma pigmentosum, group A ×

Variant: rs1554701540 ×

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:

rs1554701540

Entrez Id:	7507
Gene Symbol:	XPA

XPA

CUI:	C0268135
Disease:

Xeroderma pigmentosum, group A

0.700

GeneticVariation

CLINVAR

Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

25566891

2015