Shwachman-diamond syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SHWACHMAN SYNDROME
C0272170
DNAJC21 Unknown — ClinVar, Disgenet —
EIF6 Unknown — Disgenet
SRP54 Unknown — ClinVar, Disgenet
SHWACHMAN-DIAMOND SYNDROME
811MESH:D000081003MONDO:0009833
DNAJC21 Unknown
28062395
CTD, GWAS catalog, Orphanet —
EFL1 Unknown
28331068
Disgenet, Orphanet
EIF6 Unknown
32657013
GenCC
SBDS Unknown
12496757 14749921 15284109 15769891 17475909 20301722 22510201 23115272 23602541
CTD, ClinGen, Disgenet, Orphanet
SRP54 Unknown
28972538
CTD, Disgenet
SRPRA Unknown
36223592
GWAS catalog
All7 Causal6 Unknown6
Related Diseases Diseases that share the most curated genes with Shwachman-diamond syndrome.
5 View disease cluster →
Congenital neutropenia 3 shared genesSRP19, SRP54, SRPRA Related via 3 shared genes including SRP19, SRP54, SRPRA. Severe neonatal spondylometaphyseal dysplasia 1 shared geneSBDS Related via 1 shared gene including SBDS. Congenital bone marrow failure syndrome 1 shared geneDNAJC21 Related via 1 shared gene including DNAJC21. Anodontia 1 shared geneSBDS Related via 1 shared gene including SBDS. Severe congenital neutropenia 2 shared genesSRP19, SRP54 Related via 2 shared genes including SRP19, SRP54.