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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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