abnormal cochlear inner hair cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell's surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane (Mammalian Phenotype Ontology, MP_0004393)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004393
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Genes

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

Symbol Name
ACAN aggrecan
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
BSN bassoon presynaptic cytomatrix protein
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CALCB calcitonin-related polypeptide beta
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDH23 cadherin-related 23
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
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)
CLDN14 claudin 14
CLIC5 chloride intracellular channel 5
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
CYS1 cystin 1
DFNB31 deafness, autosomal recessive 31
EMX2 empty spiracles homeobox 2
EPS8L2 EPS8-like 2
ESPN espin
ESR2 estrogen receptor 2 (ER beta)
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FSCN2 fascin actin-bundling protein 2, retinal
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
GRXCR1 glutaredoxin, cysteine rich 1
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HR hair growth associated
IGF1R insulin-like growth factor 1 receptor
JAG1 jagged 1
JAG2 jagged 2
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
LHFPL5 lipoma HMGIC fusion partner-like 5
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MARVELD2 MARVEL domain containing 2
MKKS McKusick-Kaufman syndrome
MSRB3 methionine sulfoxide reductase B3
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NDP Norrie disease (pseudoglioma)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOG noggin
NR2F1 nuclear receptor subfamily 2, group F, member 1
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OTOF otoferlin
PAX8 paired box 8
PCDH15 protocadherin-related 15
POU4F3 POU class 4 homeobox 3
PSAP prosaposin
PTK7 protein tyrosine kinase 7 (inactive)
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
SCARB2 scavenger receptor class B, member 2
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
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
SLITRK6 SLIT and NTRK-like family, member 6
SOD1 superoxide dismutase 1, soluble
SRRM4 serine/arginine repetitive matrix 4
SYNJ2 synaptojanin 2
TMC1 transmembrane channel-like 1
TMPRSS3 transmembrane protease, serine 3
TRIOBP TRIO and F-actin binding protein
TUB tubby bipartite transcription factor
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
VANGL2 VANGL planar cell polarity protein 2