DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs121434629 ×

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:

rs121434629

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:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

17557300

2007

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

25194673

2014

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis.

7628019

1995

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

20531397

2010

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Hepatic adenomas caused by somatic HNF1A mutations in children with biallelic mismatch repair gene mutations.

21182953

2011

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.

27863258

2017

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

24055113

2013

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

24027009

2013

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Clinical problem-solving. Spot diagnosis.

24897087

2014

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

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

18602922

2008

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

17557300

2007

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

18273873

2008

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

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

21376568

2011

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

27433846

2016

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.

19156169

2009

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Integrated analysis of unclassified variants in mismatch repair genes.

21239990

2011

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Long-range PCR facilitates the identification of PMS2-specific mutations.

16619239

2006

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

15256438

2004

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Long-range PCR facilitates the identification of PMS2-specific mutations.

16619239

2006

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

23709753

2013

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.

28528518

2018

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

24055113

2013

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

16144131

2005

dbSNP:

rs121434629

PMS2

0.700

CausalMutation

CLINVAR

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

27435373

2016