DisGeNET - a database of gene-disease associations

Cerebrooculofacioskeletal Syndrome 1, C0220722

Variant: rs121917905 ×

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:

rs121917905

rs121917905

ERCC6

0.800

GeneticVariation

UNIPROT

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

2010

dbSNP:

rs121917905

rs121917905

ERCC6

G

0.800

CausalMutation

CLINVAR