small ears Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the external ear. (Human Phenotype Ontology, HP_0008551)
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20 gene mutations causing the small ears phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BCL2 B-cell CLL/lymphoma 2
BMP5 bone morphogenetic protein 5
CHRD chordin
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FLG filaggrin
FOXP3 forkhead box P3
FREM2 FRAS1 related extracellular matrix protein 2
HFM Hemifacial microsomia
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
LMNA lamin A/C
MMP14 matrix metallopeptidase 14 (membrane-inserted)
PAX6 paired box 6
PAX8 paired box 8
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
SFN stratifin
TBX1 T-box 1
TYRP1 tyrosinase-related protein 1
WNT5A wingless-type MMTV integration site family, member 5A