disproportionate short-trunk short stature Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. (Human Phenotype Ontology, HP_0003521)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0003521
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Genes

14 genes associated with the disproportionate short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
ARSB	arylsulfatase B
BMPER	BMP binding endothelial regulator
COL2A1	collagen, type II, alpha 1
DLL3	delta-like 3 (Drosophila)
DYM	dymeclin
FLNB	filamin B, beta
GALNS	galactosamine (N-acetyl)-6-sulfatase
GLB1	galactosidase, beta 1
NKX3-2	NK3 homeobox 2
RAB33B	RAB33B, member RAS oncogene family
SMARCAL1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TRAPPC2	trafficking protein particle complex 2
TRIP11	thyroid hormone receptor interactor 11
TRPV4	transient receptor potential cation channel, subfamily V, member 4