BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750413473
rs750413473
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs750413473
rs750413473
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
dbSNP: rs750413473
rs750413473
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR The BARD1 C-terminal domain structure and interactions with polyadenylation factor CstF-50. 18842000 2008
dbSNP: rs750413473
rs750413473
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Crystal structure of the BARD1 BRCT domains. 17550235 2007
dbSNP: rs750413473
rs750413473
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR BARD1 induces apoptosis by catalysing phosphorylation of p53 by DNA-damage response kinase. 15782130 2005
dbSNP: rs750413473
rs750413473
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains. 14578343 2003