protruding ear Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). (Human Phenotype Ontology, HP_0000411)
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35 genes associated with the protruding ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANTXR1 anthrax toxin receptor 1
ARX aristaless related homeobox
B3GALTL beta 1,3-galactosyltransferase-like
BLM Bloom syndrome, RecQ helicase-like
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
CCDC8 coiled-coil domain containing 8
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCF1 cardiotrophin-like cytokine factor 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
DCAF17 DDB1 and CUL4 associated factor 17
DOCK6 dedicator of cytokinesis 6
DSE dermatan sulfate epimerase
EIF4A3 eukaryotic translation initiation factor 4A3
FAM20C family with sequence similarity 20, member C
FBXL4 F-box and leucine-rich repeat protein 4
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KIF11 kinesin family member 11
MBD5 methyl-CpG binding domain protein 5
MEGF8 multiple EGF-like-domains 8
PIEZO2 piezo-type mechanosensitive ion channel component 2
PQBP1 polyglutamine binding protein 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SCARF2 scavenger receptor class F, member 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
TBX22 T-box 22
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TRPS1 trichorhinophalangeal syndrome I
WDR19 WD repeat domain 19
ZDHHC9 zinc finger, DHHC-type containing 9