BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE Neither LoF variants nor predicted damaging rare missense variants in BARD1 were identified in 451 familial index patients with OC. 31036035 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE These results suggest that BARD1 mutations are responsible for, if any, a very small number of familial breast cancers. 14550946 2003