DisGeNET - a database of gene-disease associations

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4, C1838333

Variant: rs63751466 ×

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:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

25512458

2015

dbSNP:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

23012243

2013

dbSNP:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

20205264

2010

dbSNP:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

18602922

2008

dbSNP:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

18824584

2008

dbSNP:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

PMS2 mutations in childhood cancer.

16507833

2006

dbSNP:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

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

15077197

2004

dbSNP:

rs63751466

PMS2

0.700

CausalMutation

CLINVAR

A hPMS2 mutant cell line is defective in strand-specific mismatch repair.

7629132

1995