tracheomalacia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A tracheal disease characterized by flaccidity of the tracheal support cartilage. (Human Disease Ontology, DOID_0060313)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002779
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Genes

16 genes associated with the tracheomalacia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMER1 APC membrane recruitment protein 1
BMPER BMP binding endothelial regulator
COL2A1 collagen, type II, alpha 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FGFR2 fibroblast growth factor receptor 2
FLNB filamin B, beta
HDAC4 histone deacetylase 4
HRAS Harvey rat sarcoma viral oncogene homolog
IDS iduronate 2-sulfatase
KIF22 kinesin family member 22
LTBP4 latent transforming growth factor beta binding protein 4
ORC4 origin recognition complex, subunit 4
PAX3 paired box 3
PRRX1 paired related homeobox 1
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
SOX9 SRY (sex determining region Y)-box 9