Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3
0.600 Biomarker disease GENOMICS_ENGLAND Refining the phenotype associated with biallelic DNAJC21 mutations. 29700810 2018
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3
0.600 GeneticVariation disease UNIPROT DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 27346687 2016
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3
0.600 Biomarker disease GENOMICS_ENGLAND DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 27346687 2016
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3
0.600 CausalMutation disease CLINVAR