periauricular skin pits Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. (Human Phenotype Ontology, HP_0100277)
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19 genes associated with the periauricular skin pits phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALTL beta 1,3-galactosyltransferase-like
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EYA1 EYA transcriptional coactivator and phosphatase 1
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GPC3 glypican 3
GSC goosecoid homeobox
JAG1 jagged 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KMT2D lysine (K)-specific methyltransferase 2D
NKX2-5 NK2 homeobox 5
PAX1 paired box 1
RAB23 RAB23, member RAS oncogene family
SALL1 spalt-like transcription factor 1
SIX1 SIX homeobox 1
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
ZFPM2 zinc finger protein, FOG family member 2