abnormal hair cell physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the sensory epithelial cells of the inner ear (Mammalian Phenotype Ontology, MP_0003879)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003879
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Genes

35 gene mutations causing the abnormal 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
GJB6 gap junction protein, beta 6, 30kDa
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
MYO1C myosin IC
MYO7A myosin VIIA
OTOF otoferlin
OTOS otospiralin
PAX8 paired box 8
PDZD7 PDZ domain containing 7
PSAP prosaposin
PTPRQ protein tyrosine phosphatase, receptor type, Q
SCARB2 scavenger receptor class B, member 2
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
TMC1 transmembrane channel-like 1
TMC2 transmembrane channel-like 2
TRIOBP TRIO and F-actin binding protein
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)