absent distortion product otoacoustic emissions Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion (Mammalian Phenotype Ontology, MP_0004737)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004737
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27 gene mutations causing the absent distortion product otoacoustic emissions phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
ALG10 ALG10, alpha-1,2-glucosyltransferase
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDH23 cadherin-related 23
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CLRN1 clarin 1
DFNB31 deafness, autosomal recessive 31
GATA3 GATA binding protein 3
GRID1 glutamate receptor, ionotropic, delta 1
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
LOXHD1 lipoxygenase homology domains 1
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MKKS McKusick-Kaufman syndrome
MYO7A myosin VIIA
S1PR2 sphingosine-1-phosphate receptor 2
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SOBP sine oculis binding protein homolog (Drosophila)
STRC stereocilin
TECTA tectorin alpha
THRB thyroid hormone receptor, beta
TMPRSS3 transmembrane protease, serine 3
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
USH1G Usher syndrome 1G (autosomal recessive)