DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Variant: rs63751108 ×

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:

rs63751108

MSH2

0.700

CausalMutation

CLINVAR

Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

24710284

2014

dbSNP:

rs63751108

MSH2

0.700

CausalMutation

CLINVAR

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

20591884

2010

dbSNP:

rs63751108

MSH2

0.700

CausalMutation

CLINVAR

Some aspects of molecular diagnostics in Lynch syndrome.

20223024

2006

dbSNP:

rs63751108

MSH2

0.700

CausalMutation

CLINVAR

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

15713769

2005

dbSNP:

rs63751108

MSH2

0.700

CausalMutation

CLINVAR

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.

8261515

1993