DisGeNET - a database of gene-disease associations

De Sanctis-Cacchione syndrome, C0265201

Variant: rs151242354 ×

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:

rs151242354

ERCC6

0.700

GeneticVariation

CLINVAR

Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

27356891

2016

dbSNP:

rs151242354

ERCC6

0.700

GeneticVariation

CLINVAR

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

21228398

2011

dbSNP:

rs151242354

ERCC6

0.700

GeneticVariation

CLINVAR

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

19894250

2010