DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C ×

Variant: rs1402162002 ×

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:

rs1402162002

XPC

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

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

dbSNP:

rs1402162002

XPC

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

Xeroderma pigmentosum group C in an isolated region of Guatemala.

16990803

2007