Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. | 24733792 | 2014 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Simplifying the detection of MUTYH mutations by high resolution melting analysis. | 20687945 | 2010 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. | 19793053 | 2009 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. | 15673720 | 2005 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. | 12606733 | 2003 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. | 11801590 | 2002 |