BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Aplasia Cutis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.010 GeneticVariation disease BEFREE This is the first reported case of a patient with ACC associated with a BRCA2 germline mutation. 27603373 2016