Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 Biomarker disease CTD_human
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.100 SusceptibilityMutation disease CLINVAR
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A 67-year-old woman with BRCA 1 mutation associated with pancreatic adenocarcinoma. 20711688 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389 2001
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389 2001
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing. 12034536 2002
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism. 10479726 1999
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. 7837387 1995
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. 24312913 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. 21447777 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. 21447777 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa. 21204799 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067 1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067 1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. 20838878 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541 2010
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A high proportion of founder BRCA1 mutations in Polish breast cancer families. 15146557 2004
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198 1998
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198 1998
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151 1997
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151 1997
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013