| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. | 27064304 | 2016 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. | 26437257 | 2015 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer. | 17505997 | 2007 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. | 17473388 | 2007 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes. | 16181381 | 2005 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. | 16216036 | 2005 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. | 15996210 | 2005 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | 15713769 | 2005 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. | 15849733 | 2005 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. | 11920650 | 2002 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. | 10995807 | 2000 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach. | 10713887 | 2000 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. | 9777949 | 1998 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Secretion of alpha-immunoreactive inhibin by human pre-embryos cultured in vitro. | 1522200 | 1992 |