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 A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483 2008
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 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627 2015
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 BEFREE Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. 17033622 2006
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. 16153896 2005
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 CausalMutation disease CLINVAR A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 19127258 2009
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation 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 Patterns and functional implications of rare germline variants across 12 cancer types. 26689913 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144 2011
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 GeneticVariation disease CLINVAR Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 20639400 2010
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 GeneticVariation disease CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627 2015
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 GeneticVariation disease CLINVAR The DNA repair helicases XPD and FancJ have essential iron-sulfur domains. 16973432 2006
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 Biomarker disease CLINGEN 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
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 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 Biomarker disease GENOMICS_ENGLAND The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease UNIPROT 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
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