SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
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 		0.420 Biomarker disease BEFREE Here we present the genetic analysis of SBDS and SH2D1A in Japanese children with AA. 18024409 2007
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.420 GeneticVariation disease LHGDN We propose that heterozygosity for the 258 + 2 T>C SBDS mutation predisposes to AA by accelerating telomere shortening of leukocytes via a telomerase-independent mechanism. 17478638 2007
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.420 Biomarker disease CTD_human
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.420 CausalMutation disease CLINVAR
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.420 Biomarker disease HPO