DisGeNET - a database of gene-disease associations

Werner Syndrome, C0043119

Variant: rs113993961 ×

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:

rs113993961

WRN

0.700

CausalMutation

CLINVAR

The spectrum of WRN mutations in Werner syndrome patients.

16673358

2006

dbSNP:

rs113993961

WRN

0.700

CausalMutation

CLINVAR

Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products.

10543396

1999

dbSNP:

rs113993961

WRN

0.700

CausalMutation

CLINVAR

Prevalence of Werner's syndrome heterozygotes in Japan.

10347997

1999

dbSNP:

rs113993961

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:

rs113993961

WRN

0.700

CausalMutation

CLINVAR

Positional cloning of the Werner's syndrome gene.

8602509

1996