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

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:

rs1554701540

1.000

0.160

97687222

frameshift variant

CT/-

delins

CUI:	C0268135
Disease:	Xeroderma pigmentosum, group A

Xeroderma pigmentosum, group A

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

0.700

1.000

2015