DisGeNET - a database of gene-disease associations

Werner Syndrome, C0043119

Variant: rs17847577 ×

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:

rs17847577

WRN

0.700

CausalMutation

CLINVAR

Clinical utility gene card for: Werner Syndrome--Update 2014.

25182132

2015

dbSNP:

rs17847577

WRN

0.700

CausalMutation

CLINVAR

Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.

25390333

2014

dbSNP:

rs17847577

WRN

0.700

CausalMutation

CLINVAR

The spectrum of WRN mutations in Werner syndrome patients.

16673358

2006

dbSNP:

rs17847577

WRN

0.700

CausalMutation

CLINVAR

Werner syndrome and mutations of the WRN and LMNA genes in France.

16786514

2006

dbSNP:

rs17847577

WRN

0.700

CausalMutation

CLINVAR

Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population.

9225981

1997

dbSNP:

rs17847577

WRN

0.700

CausalMutation

CLINVAR

Homozygous and compound heterozygous mutations at the Werner syndrome locus.

8968742

1996