DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Cerebrooculofacioskeletal Syndrome 1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0220722
Disease:	Cerebrooculofacioskeletal Syndrome 1

Cerebrooculofacioskeletal Syndrome 1

0.740

GeneticVariation

UNIPROT

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

2010