abnormal hearing physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly in the ability to perceive auditory stimuli (Mammalian Phenotype Ontology, MP_0001963)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001963
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Genes

270 gene mutations causing the abnormal hearing physiology 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
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
ALG10 ALG10, alpha-1,2-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
AP3B2 adaptor-related protein complex 3, beta 2 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
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
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
BDNF brain-derived neurotrophic factor
BMP4 bone morphogenetic protein 4
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
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)
CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16
CHD7 chromodomain helicase DNA binding protein 7
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CIB2 calcium and integrin binding family member 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
CS citrate synthase
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYS1 cystin 1
DFNB31 deafness, autosomal recessive 31
DFNB59 deafness, autosomal recessive 59
DLX1 distal-less homeobox 1
DMD dystrophin
DNAH5 dynein, axonemal, heavy chain 5
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNM1 dynamin 1
DUOX2 dual oxidase 2
DUSP6 dual specificity phosphatase 6
EDNRB endothelin receptor type B
ELMOD1 ELMO/CED-12 domain containing 1
EMX2 empty spiracles homeobox 2
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
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
FBXO11 F-box protein 11
FBXO2 F-box protein 2
FGF20 fibroblast growth factor 20
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FIGN fidgetin
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXI1 forkhead box I1
FOXN1 forkhead box N1
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
GDF6 growth differentiation factor 6
GFI1 growth factor independent 1 transcription repressor
GIPC3 GIPC PDZ domain containing family, member 3
GJB6 gap junction protein, beta 6, 30kDa
GJC3 gap junction protein, gamma 3, 30.2kDa
GPX1 glutathione peroxidase 1
GRID1 glutamate receptor, ionotropic, delta 1
GRID2 glutamate receptor, ionotropic, delta 2
GRXCR1 glutaredoxin, cysteine rich 1
GUSB glucuronidase, beta
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HOXB2 homeobox B2
HPN hepsin
IDUA iduronidase, alpha-L-
IGF1 insulin-like growth factor 1 (somatomedin C)
IL17RD interleukin 17 receptor D
ILDR1 immunoglobulin-like domain containing receptor 1
IRS1 insulin receptor substrate 1
ISL1 ISL LIM homeobox 1
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
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLC2 kinesin light chain 2
KLHL18 kelch-like family member 18
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LHFPL2 lipoma HMGIC fusion partner-like 2
LHFPL5 lipoma HMGIC fusion partner-like 5
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
LRP2 low density lipoprotein receptor-related protein 2
LRRC4 leucine rich repeat containing 4
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MAP1A microtubule-associated protein 1A
MARVELD2 MARVEL domain containing 2
MBP myelin basic protein
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
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
MYO15A myosin XVA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGFR nerve growth factor receptor
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NOTCH3 notch 3
NPR3 natriuretic peptide receptor 3
NPTN neuroplastin
NR2F1 nuclear receptor subfamily 2, group F, member 1
NTNG2 netrin G2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OCM oncomodulin
OGFOD3 2-oxoglutarate and iron-dependent oxygenase domain containing 3
OPRL1 opiate receptor-like 1
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOS otospiralin
PARP1 poly (ADP-ribose) polymerase 1
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PEX3 peroxisomal biogenesis factor 3
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
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PSAP prosaposin
PTN pleiotrophin
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
RERE arginine-glutamic acid dipeptide (RE) repeats
RGN regucalcin
RPL38 ribosomal protein L38
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
SH3PXD2B SH3 and PX domains 2B
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
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
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)
SPTBN4 spectrin, beta, non-erythrocytic 4
SRRM4 serine/arginine repetitive matrix 4
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
TCF4 transcription factor 4
TECTA tectorin alpha
TECTB tectorin beta
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGIF1 TGFB-induced factor homeobox 1
THRB thyroid hormone receptor, beta
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
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
TUB tubby bipartite transcription factor
TYRP1 tyrosinase-related protein 1
UBE3B ubiquitin protein ligase E3B
UCN urocortin
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
WDTC1 WD and tetratricopeptide repeats 1
ZCCHC14 zinc finger, CCHC domain containing 14
ZEB1 zinc finger E-box binding homeobox 1
ZNF24 zinc finger protein 24