abnormal hearing electrophysiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in auditory function as it relates to electrical phenomena (Mammalian Phenotype Ontology, MP_0006335)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006335
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Genes

229 gene mutations causing the abnormal hearing electrophysiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
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
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
BARHL1 BarH-like homeobox 1
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
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CIB2 calcium and integrin binding family member 2
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
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)
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
DNM1 dynamin 1
DUOX2 dual oxidase 2
DUSP6 dual specificity phosphatase 6
ELMOD1 ELMO/CED-12 domain containing 1
EMX2 empty spiracles homeobox 2
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
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
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
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
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
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
MARVELD2 MARVEL domain containing 2
MBP myelin basic protein
MCOLN3 mucolipin 3
MCPH1 microcephalin 1
MED11 mediator complex subunit 11
METTL24 methyltransferase like 24
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
MYH9 myosin, heavy chain 9, non-muscle
MYO15A myosin XVA
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
NTNG2 netrin G2
OGFOD3 2-oxoglutarate and iron-dependent oxygenase domain containing 3
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOS otospiralin
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
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
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
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
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLITRK6 SLIT and NTRK-like family, member 6
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
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
UCN urocortin
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
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