DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Gene: PMS2 ×

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:

rs111466480

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:

rs111466480

PMS2

0.700

GeneticVariation

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:

rs113517055

PMS2

0.700

GeneticVariation

CLINVAR

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

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

24027009

2013

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.

25006859

2014

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Recurrent and founder mutations in the PMS2 gene.

22577899

2013

dbSNP:

rs121434629

PMS2

0.700

GeneticVariation

CLINVAR

Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.

26866578

2016

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

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

23709753

2013

dbSNP:

rs1554294393

PMS2

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554297040

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:

rs1554297040

PMS2

0.700

GeneticVariation

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:

rs1554297040

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:

rs1554297040

PMS2

0.700

GeneticVariation

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:

rs1554300689

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:

rs1554300689

PMS2

0.700

GeneticVariation

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:

rs1562604682

PMS2

0.700

GeneticVariation

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:

rs1562604682

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:

rs1562605623

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:

rs1562605623

PMS2

0.700

GeneticVariation

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:

rs1562616355

PMS2

GTGT

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:

rs1562616355

PMS2

GTGT

0.700

GeneticVariation

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:

rs1562664845

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:

rs1562664845

PMS2

0.700

GeneticVariation

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:

rs1562669585

PMS2

0.700

GeneticVariation

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