DisGeNET - a database of gene-disease associations

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

N. diseases: 209; N. variants: 53

Disease: Vertical supranuclear gaze palsy ×

Variant: rs778543124 ×

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:

rs778543124

rs778543124

Entrez Id:	7507
Gene Symbol:	XPA

XPA

CUI:	C1843369
Disease:

Vertical supranuclear gaze palsy

A

0.700

CausalMutation

CLINVAR