short chin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. (Human Phenotype Ontology, HP_0000331)
External Link
Similar Terms
Downloads & Tools


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

Symbol Name
COX7B cytochrome c oxidase subunit VIIb
DST dystonin
EDA ectodysplasin A
FLNA filamin A, alpha
ITCH itchy E3 ubiquitin protein ligase
MBD5 methyl-CpG binding domain protein 5
MEF2C myocyte enhancer factor 2C
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PTF1A pancreas specific transcription factor, 1a
RECQL4 RecQ protein-like 4
SHANK3 SH3 and multiple ankyrin repeat domains 3
ZBTB24 zinc finger and BTB domain containing 24