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SBDS - SBDS ribosome maturation factor
- Synonym(s) : CGI-97, FLJ10917, SDO1, SDS, SWDS
- Previous symbols and names : SBDS, ribosome assembly guanine nucleotide exchange factor, Shwachman-Bodian-Diamond syndrome
- Type : gene with protein product
- Chromosomal location : 7q11.21
- OMIM: 607444
- HGNC: 19440
- UniProtKB: Q9Y3A5
- Genatlas: SBDS
- GenCC: SBDS
- Ensembl: ENSG00000126524
- IUPHAR-DB: -
- Reactome: -
- LOVD: SBDS
Diseases list
- Disease-causing germline mutation(s) in SBDS-related severe neonatal spondylometaphyseal dysplasia
ORPHA:622934 
- Disease-causing germline mutation(s) in Shwachman-Diamond syndrome
ORPHA:811 - Major susceptibility factor in Idiopathic aplastic anemia
ORPHA:88
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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