DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C ×

Variant: rs121965088 ×

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:

rs121965088

XPC

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.

25256075

2015

dbSNP:

rs121965088

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:

rs121965088

XPC

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.

11511294

2001

dbSNP:

rs121965088

XPC

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.

10766188

2000