chin dimple Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A persistent midline depression of the skin over the fat pad of the chin. (Human Phenotype Ontology, HP_0010751)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010751
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Genes

9 genes associated with the chin dimple phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHD7 chromodomain helicase DNA binding protein 7
ERF Ets2 repressor factor
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
TBX22 T-box 22
TWIST2 twist family bHLH transcription factor 2