Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 Biomarker disease CTD_human
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 Biomarker disease BEFREE FANCJ (BACH1) helicase forms DNA damage inducible foci with replication protein A and interacts physically and functionally with the single-stranded DNA-binding protein. 17596542 2007
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease BEFREE FANCJ mutations are genetically linked to the Fanconi anemia complementation group J and predispose individuals to breast cancer. 19419957 2009
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 CausalMutation disease CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483 2008
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483 2008
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 CausalMutation disease CLINVAR A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 19127258 2009
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease CLINVAR A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 19127258 2009
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease CLINVAR BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. 16153896 2005
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 Biomarker disease CLINGEN BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. 16153896 2005
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562 2010
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 CausalMutation disease CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562 2010
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease BEFREE Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. 17033622 2006
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease CLINVAR BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. 29368626 2018
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 CausalMutation disease CLINVAR BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. 29368626 2018
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727 2015
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease CLINVAR Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. 20616022 2010
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		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
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 CausalMutation disease CLINVAR Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. 19763819 2010
Entrez Id: 6117
Gene Symbol: RPA1
RPA1 		0.010 GeneticVariation disease BEFREE FANCJ (BACH1) helicase forms DNA damage inducible foci with replication protein A and interacts physically and functionally with the single-stranded DNA-binding protein. 17596542 2007
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		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
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 CausalMutation disease CLINVAR FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 27179029 2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 Biomarker disease CLINGEN FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway. 26637282 2015
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.760 GeneticVariation disease CLINVAR FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response. 22792074 2012
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		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