DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Variant: rs63750488 ×

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:

rs63750488

MSH2

0.700

CausalMutation

CLINVAR

Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.

22883484

2013

dbSNP:

rs63750488

MSH2

0.700

CausalMutation

CLINVAR

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

16451135

2006

dbSNP:

rs63750488

MSH2

0.700

CausalMutation

CLINVAR

Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer.

12626904

2003