Disease: Shwachman syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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