Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
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 GeneticVariation disease CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. 19763819 2010
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 GeneticVariation disease CLINVAR Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. 20616022 2010
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
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 CausalMutation disease CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055 2011
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 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622 2006
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499 2014
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 GeneticVariation disease CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
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 GeneticVariation disease CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562 2010
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 GeneticVariation disease CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. 16116423 2005