| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. | 28805995 | 2017 |
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|
A | 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 |
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|
A | 0.700 | CausalMutation | CLINVAR | The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. | 26110232 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. | 25512458 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. | 23012243 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Avoidance of pseudogene interference in the detection of 3' deletions in PMS2. | 21618646 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. | 18602922 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | PMS2 mutations in childhood cancer. | 16507833 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. | 15077197 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. | 10037723 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Review of the basic principles of drug action. | 2440087 | 1986 |