Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 Biomarker disease CTD_human
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 Biomarker disease GENOMICS_ENGLAND
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 Biomarker disease GENOMICS_ENGLAND Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. 14630800 2004
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 Biomarker disease CLINGEN The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. 16116421 2005
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 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 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
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease BEFREE 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 Biomarker disease GENOMICS_ENGLAND 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 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 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 CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
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 Biomarker disease CLINGEN The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 GeneticVariation disease UNIPROT The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
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 Biomarker disease CLINGEN 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 Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. 16280053 2005
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 BEFREE Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. 17033622 2006
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 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 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
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 GeneticVariation disease CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483 2008