DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C ×

Variant: rs757958943 ×

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:

rs757958943

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:

rs757958943

XPC

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

24218596

2013

dbSNP:

rs757958943

XPC

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

20054342

2010