DisGeNET - a database of gene-disease associations

De Sanctis-Cacchione syndrome, C0265201

Variant: rs373227647 ×

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:

rs373227647

ERCC6

0.700

CausalMutation

CLINVAR

A possible cranio-oro-facial phenotype in Cockayne syndrome.

23311583

2013

dbSNP:

rs373227647

ERCC6

0.700

CausalMutation

CLINVAR

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

19894250

2010