abnormal cochlear hair cell physiology Gene Set
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)
|