Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Entrez Id: |
5925 |
Gene Symbol: |
RB1 |
RB1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A hPMS2 mutant cell line is defective in strand-specific mismatch repair.
|
7629132 |
1995 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.
|
9488480 |
1998 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
|
10480359 |
1999 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms.
|
11793469 |
2002 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
|
15077197 |
2004 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
|
15887124 |
2005 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
|
16144131 |
2005 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.
|
16616355 |
2006 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
|
16472587 |
2006 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
PMS2 mutations in childhood cancer.
|
16507833 |
2006 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
|
18178629 |
2008 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
|
18824584 |
2008 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.
|
19479271 |
2009 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
|
20487569 |
2010 |