Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 CausalMutation CLINVAR

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR

Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.450 CausalMutation CLINVAR

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.450 CausalMutation CLINVAR

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.100 CausalMutation CLINVAR

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Breast tumors which arise in carriers of CHEK2 mutations seem to be similar to those of breast cancers in the population at large. 16914568

2006

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.100 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013

Entrez Id: 6093
Gene Symbol: ROCK1
ROCK1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.120 GeneticVariation CLINVAR Activating ROCK1 somatic mutations in human cancer. 20140017

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR AIDS legislation. 3175448

1988

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR BRCT repeats as phosphopeptide-binding modules involved in protein targeting. 14576432

2003

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144

2012

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Chromosome damage in G0 X-irradiated lymphocytes from patients with hereditary retinoblastoma. 6455195

1981

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation CLINVAR Diagnosis of vertebral fractures. 6848529

1983

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib. 22046346

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation CLINVAR Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective. 26344711

2015