BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker disease CLINGEN Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. 31347298 2019
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 GeneticVariation disease UNIPROT Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 29133208 2018
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker disease CLINGEN Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 29133208 2018
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker disease GENOMICS_ENGLAND Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 29712865 2018
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker disease CLINGEN Fanconi anaemia and cancer: an intricate relationship. 29376519 2018
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker disease CLINGEN Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 29712865 2018
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker disease GENOMICS_ENGLAND Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice. 26644450 2016
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 GeneticVariation disease UNIPROT Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 25472942 2015
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker disease CLINGEN Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 25472942 2015
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 Biomarker disease CLINGEN Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. 23269703 2013
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 GeneticVariation disease UNIPROT Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. 23269703 2013
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 CausalMutation disease CLINVAR