Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diamond-Blackfan Anemia 10
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
0.700 CausalMutation CLINVAR Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 26136524 2015
Diamond-Blackfan Anemia 10
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
0.700 CausalMutation CLINVAR Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 24942156 2014
Diamond-Blackfan Anemia 10
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
0.700 CausalMutation CLINVAR Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 20116044 2010
Bone marrow hypocellularity
CUI: C1855710
Disease: Bone marrow hypocellularity
0.700 CausalMutation CLINVAR
Diamond-Blackfan Anemia 10
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
0.700 CausalMutation CLINVAR