Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 Biomarker CTD_human

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A 67-year-old woman with BRCA 1 mutation associated with pancreatic adenocarcinoma. 20711688

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389

2001

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389

2001

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. 24312913

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067

1996

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067

1996

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. 20838878

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A high proportion of founder BRCA1 mutations in Polish breast cancer families. 15146557

2004

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011