preauricular skin tag Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear). (Human Phenotype Ontology, HP_0000384)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000384
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Genes

34 genes associated with the preauricular skin tag phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX3 ALX homeobox 3
ANKRD11 ankyrin repeat domain 11
B3GALTL beta 1,3-galactosyltransferase-like
BCOR BCL6 corepressor
CCDC22 coiled-coil domain containing 22
CHD7 chromodomain helicase DNA binding protein 7
CTNND2 catenin (cadherin-associated protein), delta 2
EFTUD2 elongation factor Tu GTP binding domain containing 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FLNB filamin B, beta
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GPC3 glypican 3
HDAC8 histone deacetylase 8
IRX5 iroquois homeobox 5
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SF3B4 splicing factor 3b, subunit 4, 49kDa
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
TCOF1 Treacher Collins-Franceschetti syndrome 1
UBE3B ubiquitin protein ligase E3B
VPS13B vacuolar protein sorting 13 homolog B (yeast)