abnormal spiral limbus morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea (Mammalian Phenotype Ontology, MP_0004287)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004287
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Genes

6 gene mutations causing the abnormal spiral limbus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
NAGLU N-acetylglucosaminidase, alpha
POU3F4 POU class 3 homeobox 4
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
TGFB2 transforming growth factor, beta 2