Source: ALL
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
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.520 GeneticVariation disease BEFREE However, it has recently been reported that other genes, including DnaJ heat shock protein family (Hsp40) member C21 (DNAJC21), elongation factor-like 1 (EFL1) and signal recognition particle 54 (SRP54) are also associated with an SDS-like phenotype. 30413969 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.520 Biomarker disease BEFREE We suggest that DNAJC21-related diseases constitute a distinct IBMFS, with features overlapping Shwachman-Diamond syndrome and Dyskeratosis congenita, and additional characteristics that are specific to DNAJC21 mutations. 29700810 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.520 GermlineCausalMutation disease ORPHANET Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. 28062395 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.520 Biomarker disease CTD_human
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
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.400 Biomarker phenotype GENOMICS_ENGLAND DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. 29700810 2018
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.400 Biomarker phenotype 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: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.400 Biomarker phenotype HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		0.300 Biomarker disease CTD_human
CUI: C3808553
Disease: Bone marrow failure syndrome 1
Bone marrow failure syndrome 1 		0.300 Biomarker disease CTD_human
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.300 Biomarker disease CTD_human
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		0.100 CausalMutation disease CLINVAR DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 27346687 2016
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.100 Biomarker disease HPO