Shwachman-Diamond Syndrome Gene Set

Dataset	DisGeNET 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)
External Link	https://www.disgenet.org/browser/0/1/0/C4692625
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Genes

8 genes associated with the disease Shwachman-Diamond Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol	Name
EFL1	elongation factor like GTPase 1
FLT1	fms-related tyrosine kinase 1
MDK	midkine (neurite growth-promoting factor 2)
PTGS2	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
SBDS	Shwachman-Bodian-Diamond syndrome
SRP54	signal recognition particle 54kDa
TYW1	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)
VEGFA	vascular endothelial growth factor A