abnormal cochlear outer 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 are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell's surface through the cuticular plate into the tectorial membrane (Mammalian Phenotype Ontology, MP_0004399)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004399
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Genes

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

Symbol Name
ACAN aggrecan
ACTG1 actin gamma 1
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
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
BDNF brain-derived neurotrophic factor
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
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)
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHD7 chromodomain helicase DNA binding protein 7
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CLDN11 claudin 11
CLDN14 claudin 14
CLDN9 claudin 9
CLIC5 chloride intracellular channel 5
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
CYS1 cystin 1
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
EMX2 empty spiracles homeobox 2
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
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
GRID1 glutamate receptor, ionotropic, delta 1
GRXCR1 glutaredoxin, cysteine rich 1
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HOXB2 homeobox B2
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
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LHFPL5 lipoma HMGIC fusion partner-like 5
LOC102723475 putative uncharacterized protein LOC388820
LRP6 low density lipoprotein receptor-related protein 6
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MARVELD2 MARVEL domain containing 2
MIR96 microRNA 96
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
MYO15A myosin XVA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NDP Norrie disease (pseudoglioma)
NOG noggin
NOTCH1 notch 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
POLG polymerase (DNA directed), gamma
POU4F3 POU class 4 homeobox 3
PSAP prosaposin
PTK7 protein tyrosine kinase 7 (inactive)
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
ROR2 receptor tyrosine kinase-like orphan receptor 2
S1PR2 sphingosine-1-phosphate receptor 2
SCARB2 scavenger receptor class B, member 2
SEC24B SEC24 family member B
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), 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
SLITRK6 SLIT and NTRK-like family, member 6
SOD1 superoxide dismutase 1, soluble
SPRY2 sprouty homolog 2 (Drosophila)
STRC stereocilin
SUN1 Sad1 and UNC84 domain containing 1
SYNE4 spectrin repeat containing, nuclear envelope family member 4
SYNJ2 synaptojanin 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMC1 transmembrane channel-like 1
TMPRSS3 transmembrane protease, serine 3
TRIOBP TRIO and F-actin binding protein
TSHR thyroid stimulating hormone receptor
TUB tubby bipartite transcription factor
UCN urocortin
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL2 VANGL planar cell polarity protein 2