cochlear outer hair cell degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description degeneration or loss of the columnar outer hair sensory cells of the organ of Corti (Mammalian Phenotype Ontology, MP_0004404)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004404
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Genes

64 gene mutations causing the cochlear outer hair cell degeneration 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
APOE apolipoprotein E
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BARHL1 BarH-like homeobox 1
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)
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CLDN11 claudin 11
CLDN14 claudin 14
CLDN9 claudin 9
CLIC5 chloride intracellular channel 5
DFNB31 deafness, autosomal recessive 31
ESPN espin
FZD4 frizzled class receptor 4
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GATA3 GATA binding protein 3
GFI1 growth factor independent 1 transcription repressor
GJB6 gap junction protein, beta 6, 30kDa
GPX1 glutathione peroxidase 1
GRID1 glutamate receptor, ionotropic, delta 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
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
LHFPL5 lipoma HMGIC fusion partner-like 5
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MARVELD2 MARVEL domain containing 2
MIR96 microRNA 96
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NDP Norrie disease (pseudoglioma)
PAX8 paired box 8
PCDH15 protocadherin-related 15
POLG polymerase (DNA directed), gamma
POU4F3 POU class 4 homeobox 3
PSAP prosaposin
S1PR2 sphingosine-1-phosphate receptor 2
SCARB2 scavenger receptor class B, member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SOD1 superoxide dismutase 1, soluble
SUN1 Sad1 and UNC84 domain containing 1
SYNE4 spectrin repeat containing, nuclear envelope family member 4
SYNJ2 synaptojanin 2
THRB thyroid hormone receptor, beta
TMC1 transmembrane channel-like 1
TMPRSS3 transmembrane protease, serine 3
TUB tubby bipartite transcription factor
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)