DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs63750871 ×

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:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Inherited Mutations in Women With Ovarian Carcinoma.

26720728

2016

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

26895986

2016

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

26270727

2015

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

26318770

2015

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

24362816

2014

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

21376568

2011

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Overexpression of the DNA mismatch repair factor, PMS2, confers hypermutability and DNA damage tolerance.

16426742

2006

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.

15845562

2005

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

15077197

2004

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Variation in the extent of microsatellite instability in human cell lines with defects in different mismatch repair genes.

12714694

2003

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.

9488480

1998

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

The molecular basis of Turcot's syndrome.

7661930

1995

dbSNP:

rs63750871

PMS2

0.700

CausalMutation

CLINVAR

Mismatch repair deficiency in phenotypically normal human cells.

7632227

1995