DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C ×

Variant: rs745679643 ×

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:

rs745679643

XPC

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs745679643

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

dbSNP:

rs745679643

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