Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker CLINGEN Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. 31347298

2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker CLINGEN Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 29133208

2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker CLINGEN Fanconi anaemia and cancer: an intricate relationship. 29376519

2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker CLINGEN Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 29712865

2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker CLINGEN Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 25472942

2015
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker CLINGEN Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. 23269703

2013