Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.310 Biomarker BEFREE Mutations in genes encoding the shelterin proteins TRF1-interacting nuclear factor 2 (TIN2) and adrenocortical dysplasia homolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by somatic stem cell dysfunction in multiple organs leading to BM failure and other pleiotropic manifestations. 27135879

2016