DisGeNET - a database of gene-disease associations

Cockayne Syndrome, Type I, C0751039

Variant: rs121434325 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434325

ERCC8

0.800

GeneticVariation

UNIPROT

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

19894250

2010

dbSNP:

rs121434325

ERCC8

0.800

GeneticVariation

UNIPROT

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

15744458

2005

dbSNP:

rs121434325

ERCC8

0.800

GeneticVariation

UNIPROT

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

14661080

2004

dbSNP:

rs121434325

ERCC8

0.800

CausalMutation

CLINVAR