hearing/vestibular/ear phenotype Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005377
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Genes

469 gene mutations causing the hearing/vestibular/ear phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABHD12 abhydrolase domain containing 12
ACAN aggrecan
ACD adrenocortical dysplasia homolog (mouse)
ACHE acetylcholinesterase (Yt blood group)
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTG1 actin gamma 1
ADGRB1 adhesion G protein-coupled receptor B1
ADGRV1 adhesion G protein-coupled receptor V1
AFF3 AF4/FMR2 family, member 3
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AGTPBP1 ATP/GTP binding protein 1
AHR aryl hydrocarbon receptor
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALG10 ALG10, alpha-1,2-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3B2 adaptor-related protein complex 3, beta 2 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APOE apolipoprotein E
AQP4 aquaporin 4
ARSA arylsulfatase A
ARSB arylsulfatase B
ASIC2 acid sensing (proton gated) ion channel 2
ASIC3 acid sensing (proton gated) ion channel 3
ATF2 activating transcription factor 2
ATG4B autophagy related 4B, cysteine peptidase
ATG5 autophagy related 5
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
AXIN1 axin 1
BARHL1 BarH-like homeobox 1
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BSN bassoon presynaptic cytomatrix protein
CA8 carbonic anhydrase VIII
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CALCB calcitonin-related polypeptide beta
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBY1 chibby homolog 1 (Drosophila)
CCDC33 coiled-coil domain containing 33
CDH23 cadherin-related 23
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CDO1 cysteine dioxygenase type 1
CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CHUK conserved helix-loop-helix ubiquitous kinase
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CKMT1A creatine kinase, mitochondrial 1A
CLDN11 claudin 11
CLDN14 claudin 14
CLDN9 claudin 9
CLEC16A C-type lectin domain family 16, member A
CLIC5 chloride intracellular channel 5
CLRN1 clarin 1
COCH cochlin
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL9A1 collagen, type IX, alpha 1
CPLX1 complexin 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CS citrate synthase
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNNA2 catenin (cadherin-associated protein), alpha 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSV cathepsin V
CYBA cytochrome b-245, alpha polypeptide
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYS1 cystin 1
DCHS1 dachsous cadherin-related 1
DDR1 discoidin domain receptor tyrosine kinase 1
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DFNB59 deafness, autosomal recessive 59
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMD dystrophin
DNAH5 dynein, axonemal, heavy chain 5
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNM1 dynamin 1
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DUOX2 dual oxidase 2
DUSP6 dual specificity phosphatase 6
DVL3 dishevelled segment polarity protein 3
E2F4 E2F transcription factor 4, p107/p130-binding
ECE1 endothelin converting enzyme 1
EDARADD EDAR-associated death domain
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
EIF3C eukaryotic translation initiation factor 3, subunit C
ELMOD1 ELMO/CED-12 domain containing 1
EMX2 empty spiracles homeobox 2
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPHB2 EPH receptor B2
EPS8 epidermal growth factor receptor pathway substrate 8
EPS8L1 EPS8-like 1
EPS8L2 EPS8-like 2
ESPN espin
ESR2 estrogen receptor 2 (ER beta)
EYA1 EYA transcriptional coactivator and phosphatase 1
EYA4 EYA transcriptional coactivator and phosphatase 4
FAM107B family with sequence similarity 107, member B
FAM20C family with sequence similarity 20, member C
FAS Fas cell surface death receptor
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBXO11 F-box protein 11
FBXO2 F-box protein 2
FGF10 fibroblast growth factor 10
FGF20 fibroblast growth factor 20
FGF3 fibroblast growth factor 3
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIGN fidgetin
FLG filaggrin
FOLR1 folate receptor 1 (adult)
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXI1 forkhead box I1
FOXI3 forkhead box I3
FOXN1 forkhead box N1
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FREM2 FRAS1 related extracellular matrix protein 2
FSCN2 fascin actin-bundling protein 2, retinal
FUZ fuzzy planar cell polarity protein
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
GAS1 growth arrest-specific 1
GATA3 GATA binding protein 3
GBX2 gastrulation brain homeobox 2
GDF6 growth differentiation factor 6
GFI1 growth factor independent 1 transcription repressor
GIPC3 GIPC PDZ domain containing family, member 3
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC3 gap junction protein, gamma 3, 30.2kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GPX1 glutathione peroxidase 1
GRB2 growth factor receptor-bound protein 2
GRID1 glutamate receptor, ionotropic, delta 1
GRID2 glutamate receptor, ionotropic, delta 2
GRXCR1 glutaredoxin, cysteine rich 1
GSC goosecoid homeobox
GUSB glucuronidase, beta
HAND2 heart and neural crest derivatives expressed 2
HAPLN1 hyaluronan and proteoglycan link protein 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HESX1 HESX homeobox 1
HFM Hemifacial microsomia
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
HMX1 H6 family homeobox 1
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXA5 homeobox A5
HOXB2 homeobox B2
HPN hepsin
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HR hair growth associated
HSPG2 heparan sulfate proteoglycan 2
HTT huntingtin
IDUA iduronidase, alpha-L-
IFT88 intraflagellar transport 88
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IL17RD interleukin 17 receptor D
IL22 interleukin 22
ILDR1 immunoglobulin-like domain containing receptor 1
IREB2 iron-responsive element binding protein 2
IRF6 interferon regulatory factor 6
IRS1 insulin receptor substrate 1
ISL1 ISL LIM homeobox 1
ITGA8 integrin, alpha 8
JAG1 jagged 1
JAG2 jagged 2
JAK1 Janus kinase 1
KAT6B K(lysine) acetyltransferase 6B
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA10 potassium channel, voltage gated shaker related subfamily A, member 10
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
KDF1 keratinocyte differentiation factor 1
KIF27 kinesin family member 27
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLC2 kinesin light chain 2
KLHL18 kelch-like family member 18
KMT2A lysine (K)-specific methyltransferase 2A
KRT10 keratin 10, type I
KRT2 keratin 2, type II
LAMA2 laminin, alpha 2
LAMC2 laminin, gamma 2
LARGE like-glycosyltransferase
LHFPL2 lipoma HMGIC fusion partner-like 2
LHFPL5 lipoma HMGIC fusion partner-like 5
LMNA lamin A/C
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
LOXHD1 lipoxygenase homology domains 1
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRIG3 leucine-rich repeats and immunoglobulin-like domains 3
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
LRRC4 leucine rich repeat containing 4
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
LYST lysosomal trafficking regulator
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP1A microtubule-associated protein 1A
MARVELD2 MARVEL domain containing 2
MBP myelin basic protein
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN3 mucolipin 3
MCPH1 microcephalin 1
MDK midkine (neurite growth-promoting factor 2)
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MED11 mediator complex subunit 11
METTL24 methyltransferase like 24
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MUC5B mucin 5B, oligomeric mucus/gel-forming
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
MYO15A myosin XVA
MYO1C myosin IC
MYO3A myosin IIIA
MYO5A myosin VA (heavy chain 12, myoxin)
MYO6 myosin VI
MYO7A myosin VIIA
NABP2 nucleic acid binding protein 2
NAGLU N-acetylglucosaminidase, alpha
NCOA3 nuclear receptor coactivator 3
NDP Norrie disease (pseudoglioma)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGFR nerve growth factor receptor
NIPBL Nipped-B homolog (Drosophila)
NKX3-2 NK3 homeobox 2
NOG noggin
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NOTCH1 notch 1
NOTCH3 notch 3
NOX3 NADPH oxidase 3
NOXO1 NADPH oxidase organizer 1
NPR3 natriuretic peptide receptor 3
NPTN neuroplastin
NR2F1 nuclear receptor subfamily 2, group F, member 1
NR4A3 nuclear receptor subfamily 4, group A, member 3
NTN1 netrin 1
NTNG2 netrin G2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OC90 otoconin 90
OCA2 oculocutaneous albinism II
OCM oncomodulin
OGFOD3 2-oxoglutarate and iron-dependent oxygenase domain containing 3
OPRL1 opiate receptor-like 1
OSR2 odd-skipped related transciption factor 2
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOP1 otopetrin 1
OTOS otospiralin
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PARP1 poly (ADP-ribose) polymerase 1
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PEX3 peroxisomal biogenesis factor 3
PGAP1 post-GPI attachment to proteins 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
PIAS2 protein inhibitor of activated STAT, 2
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1
PITX1 paired-like homeodomain 1
PLA2G3 phospholipase A2, group III
PLAU plasminogen activator, urokinase
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POLH polymerase (DNA directed), eta
POU3F3 POU class 3 homeobox 3
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
PSAP prosaposin
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTK7 protein tyrosine kinase 7 (inactive)
PTN pleiotrophin
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRQ protein tyrosine phosphatase, receptor type, Q
QKI QKI, KH domain containing, RNA binding
RAG1 recombination activating gene 1
RARA retinoic acid receptor, alpha
RDH10 retinol dehydrogenase 10 (all-trans)
RDX radixin
RERE arginine-glutamic acid dipeptide (RE) repeats
RGN regucalcin
RND3 Rho family GTPase 3
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL27A ribosomal protein L27a
RPL38 ribosomal protein L38
RSPO2 R-spondin 2
S1PR2 sphingosine-1-phosphate receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCARB2 scavenger receptor class B, member 2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
SFN stratifin
SFSWAP splicing factor, suppressor of white-apricot family
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SIRT1 sirtuin 1
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
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
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
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLITRK6 SLIT and NTRK-like family, member 6
SNAP25 synaptosomal-associated protein, 25kDa
SOBP sine oculis binding protein homolog (Drosophila)
SOD1 superoxide dismutase 1, soluble
SOX2 SRY (sex determining region Y)-box 2
SPNS2 spinster homolog 2 (Drosophila)
SPRY2 sprouty homolog 2 (Drosophila)
SPTBN1 spectrin, beta, non-erythrocytic 1
SPTBN4 spectrin, beta, non-erythrocytic 4
SRRM4 serine/arginine repetitive matrix 4
STK36 serine/threonine kinase 36
STRC stereocilin
SUN1 Sad1 and UNC84 domain containing 1
SYNE4 spectrin repeat containing, nuclear envelope family member 4
SYNJ2 synaptojanin 2
TBX1 T-box 1
TBX10 T-box 10
TBX15 T-box 15
TCF15 transcription factor 15 (basic helix-loop-helix)
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TECTA tectorin alpha
TECTB tectorin beta
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGIF1 TGFB-induced factor homeobox 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMC1 transmembrane channel-like 1
TMC2 transmembrane channel-like 2
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TP73 tumor protein p73
TPO thyroid peroxidase
TRAM2 translocation associated membrane protein 2
TRIOBP TRIO and F-actin binding protein
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHR thyroid stimulating hormone receptor
TSHZ1 teashirt zinc finger homeobox 1
TSPAN12 tetraspanin 12
TTLL1 tubulin tyrosine ligase-like family member 1
TUB tubby bipartite transcription factor
TWIST2 twist family bHLH transcription factor 2
TWSG1 twisted gastrulation BMP signaling modulator 1
TYRP1 tyrosinase-related protein 1
UBE3B ubiquitin protein ligase E3B
UCN urocortin
ULK4 unc-51 like kinase 4
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDPCP WD repeat containing planar cell polarity effector
WDR1 WD repeat domain 1
WDR19 WD repeat domain 19
WDTC1 WD and tetratricopeptide repeats 1
WNT1 wingless-type MMTV integration site family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
ZCCHC14 zinc finger, CCHC domain containing 14
ZEB1 zinc finger E-box binding homeobox 1
ZIC3 Zic family member 3
ZNF24 zinc finger protein 24