Shwachman syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. (Orphanet Rare Disease Ontology, Orphanet_811)
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1 genes/proteins associated with the disease Shwachman syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
SBDS Shwachman-Bodian-Diamond syndrome 2.88009