abnormal cochlear hair cell physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve (Mammalian Phenotype Ontology, MP_0004432)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004432
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Genes

29 gene mutations causing the abnormal cochlear hair cell physiology 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
BSN bassoon presynaptic cytomatrix protein
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CDH23 cadherin-related 23
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CHD7 chromodomain helicase DNA binding protein 7
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CLRN1 clarin 1
ESPN espin
HPN hepsin
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
MYO7A myosin VIIA
OTOF otoferlin
OTOS otospiralin
PAX8 paired box 8
PDZD7 PDZ domain containing 7
PSAP prosaposin
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC26A5 solute carrier family 26 (anion exchanger), member 5
STRC stereocilin
TECTA tectorin alpha
THRB thyroid hormone receptor, beta
TMC2 transmembrane channel-like 2
TRIOBP TRIO and F-actin binding protein
USH1G Usher syndrome 1G (autosomal recessive)