DisGeNET - a database of gene-disease associations

Cerebrooculofacioskeletal Syndrome 1, C0220722

Variant: rs121917902 ×

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:

rs121917902

ERCC6 ; PGBD3

0.700

CausalMutation

CLINVAR

Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.

21143350

2011

dbSNP:

rs121917902

ERCC6 ; PGBD3

0.700

CausalMutation

CLINVAR

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

19894250

2010

dbSNP:

rs121917902

ERCC6 ; PGBD3

0.700

CausalMutation

CLINVAR

CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.

18784753

2008