Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. 29368626 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. 29368626 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. 28961279 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 28423363 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Germline Variants of Prostate Cancer in Japanese Families. 27701467 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 27443514 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Genetic testing in a cohort of young patients with HER2-amplified breast cancer. 26681682 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 27443514 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 27179029 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Monogenic and polygenic determinants of sarcoma risk: an international genetic study. 27498913 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 Biomarker disease CLINGEN FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice. 26490168 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 26556299 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Mutational analysis of FANCJ helicase. 27107905 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report. 27462233 2016