Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.100 | CausalMutation | CLINVAR | Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. | 29922827 | 2018 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. | 27664052 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. | 27664052 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. | 27978560 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. | 27873105 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. | 27913932 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. | 28779002 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | 28724667 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. | 28007021 | 2016 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. | 26635394 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. | 27595995 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. | 26915675 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. | 27433846 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. | 26824983 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Improving performance of multigene panels for genomic analysis of cancer predisposition. | 26845104 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer. | 27599564 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. | 26822949 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. | 26976419 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. | 26483394 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. | 27083775 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. | 27159176 | 2016 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Novel ATM mutations with ataxia-telangiectasia. | 26628246 | 2016 |