Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.420 Biomarker disease GENOMICS_ENGLAND DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. 29700810 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.420 Biomarker disease BEFREE DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. 29700810 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.420 Biomarker disease GENOMICS_ENGLAND Collectively, these findings demonstrate that mutations in DNAJC21 cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit. 27346687 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.420 GeneticVariation disease BEFREE Collectively, these findings demonstrate that mutations in DNAJC21 cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit. 27346687 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.420 CausalMutation disease CLINVAR
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.420 Biomarker disease HPO