DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: Aplastic Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.020 GeneticVariation disease BEFREE Boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC. 10583221 1999
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.020 Biomarker disease BEFREE The gene product, dyskerin, is homologous to a yeast protein involved in ribosomal RNA biogenesis, providing a unique insight into a cause of aplastic anemia. 10438713 1999