DisGeNET - a database of gene-disease associations

XPC, XPC complex subunit, DNA damage recognition and repair factor, 7508

N. diseases: 211; N. variants: 94

Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C ×

Variant: rs373519125 ×

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:

rs373519125

Entrez Id:	7508
Gene Symbol:	XPC

XPC

CUI:	C2752147
Disease:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.

27607234

2017

dbSNP:

rs373519125

Entrez Id:	7508
Gene Symbol:	XPC

XPC

CUI:	C2752147
Disease:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

26884178

2016