cochlear inner hair cell degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti (Mammalian Phenotype Ontology, MP_0004398)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004398
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Genes

46 gene mutations causing the cochlear inner hair cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
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
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CLDN14 claudin 14
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
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LHFPL5 lipoma HMGIC fusion partner-like 5
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MARVELD2 MARVEL domain containing 2
MSRB3 methionine sulfoxide reductase B3
MYO3A myosin IIIA
MYO6 myosin VI
NDP Norrie disease (pseudoglioma)
PCDH15 protocadherin-related 15
POU4F3 POU class 4 homeobox 3
SCARB2 scavenger receptor class B, member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
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
SRRM4 serine/arginine repetitive matrix 4
SYNJ2 synaptojanin 2
TMC1 transmembrane channel-like 1
TMPRSS3 transmembrane protease, serine 3
TUB tubby bipartite transcription factor
USH1C Usher syndrome 1C (autosomal recessive, severe)