cupped ear Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). (Human Phenotype Ontology, HP_0000378)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000378
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Genes

24 genes associated with the cupped ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BRWD3 bromodomain and WD repeat domain containing 3
CHD7 chromodomain helicase DNA binding protein 7
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR24 24-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
ECE1 endothelin converting enzyme 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GRIP1 glutamate receptor interacting protein 1
IGBP1 immunoglobulin (CD79A) binding protein 1
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
MBD5 methyl-CpG binding domain protein 5
PQBP1 polyglutamine binding protein 1
RIPK4 receptor-interacting serine-threonine kinase 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
TCF4 transcription factor 4
ZEB2 zinc finger E-box binding homeobox 2