laryngomalacia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. (Human Phenotype Ontology, HP_0001601)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001601
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Genes

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

Symbol Name
AHDC1 AT hook, DNA binding motif, containing 1
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
CHD7 chromodomain helicase DNA binding protein 7
CREBBP CREB binding protein
FGFR2 fibroblast growth factor receptor 2
FLNB filamin B, beta
HDAC4 histone deacetylase 4
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
KAT6B K(lysine) acetyltransferase 6B
KIF7 kinesin family member 7
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
LRP4 low density lipoprotein receptor-related protein 4
LTBP4 latent transforming growth factor beta binding protein 4
MEIS2 Meis homeobox 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
PCNT pericentrin
POR P450 (cytochrome) oxidoreductase
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SOX9 SRY (sex determining region Y)-box 9
TBX3 T-box 3
TCTN3 tectonic family member 3
UBE3B ubiquitin protein ligase E3B
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WRN Werner syndrome, RecQ helicase-like