Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
0.010 Biomarker disease BEFREE We used human embryonic stem cells (hESCs) with a common dyskerin mutation (DKC1_A353V), which have defective telomere maintenance and reduced definitive hematopoietic potential, to understand the effects of reducing EXOSC3 activity, or silencing PAPD5-mediated oligoadenylation, on hematopoietic progenitor specification and function in DC. 30728146 2019