impaired hearing Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced ability to perceive auditory stimuli (Mammalian Phenotype Ontology, MP_0006325)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006325
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Genes

156 gene mutations causing the impaired hearing phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABHD12 abhydrolase domain containing 12
ACAN aggrecan
ACTG1 actin gamma 1
ADGRV1 adhesion G protein-coupled receptor V1
ALG10 ALG10, alpha-1,2-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
APOE apolipoprotein E
AQP4 aquaporin 4
ARSA arylsulfatase A
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
AXIN1 axin 1
BARHL1 BarH-like homeobox 1
BDNF brain-derived neurotrophic factor
BMP4 bone morphogenetic protein 4
BSN bassoon presynaptic cytomatrix protein
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)
CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16
CHD7 chromodomain helicase DNA binding protein 7
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
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
CS citrate synthase
CSF1R colony stimulating factor 1 receptor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DFNB31 deafness, autosomal recessive 31
DLX1 distal-less homeobox 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
EDNRB endothelin receptor type B
ELMOD1 ELMO/CED-12 domain containing 1
EMX2 empty spiracles homeobox 2
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPS8L2 EPS8-like 2
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM107B family with sequence similarity 107, member B
FAM20C family with sequence similarity 20, member C
FBXO11 F-box protein 11
FBXO2 F-box protein 2
FGF20 fibroblast growth factor 20
FGFR3 fibroblast growth factor receptor 3
FIGN fidgetin
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXI1 forkhead box I1
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
GRID1 glutamate receptor, ionotropic, delta 1
GRXCR1 glutaredoxin, cysteine rich 1
GUSB glucuronidase, beta
HPN hepsin
IDUA iduronidase, alpha-L-
IGF1 insulin-like growth factor 1 (somatomedin C)
ISL1 ISL LIM homeobox 1
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
LARGE like-glycosyltransferase
LHFPL5 lipoma HMGIC fusion partner-like 5
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
LRP2 low density lipoprotein receptor-related protein 2
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MARVELD2 MARVEL domain containing 2
MCOLN3 mucolipin 3
MECOM MDS1 and EVI1 complex locus
MIR96 microRNA 96
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
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)
NGFR nerve growth factor receptor
NOG noggin
NOTCH3 notch 3
OCM oncomodulin
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOS otospiralin
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PHEX phosphate regulating endopeptidase homolog, X-linked
PMP22 peripheral myelin protein 22
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PSAP prosaposin
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
RERE arginine-glutamic acid dipeptide (RE) repeats
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
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
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
SNAP25 synaptosomal-associated protein, 25kDa
SOD1 superoxide dismutase 1, soluble
SOX2 SRY (sex determining region Y)-box 2
SPTBN4 spectrin, beta, non-erythrocytic 4
SRRM4 serine/arginine repetitive matrix 4
STRC stereocilin
SYNJ2 synaptojanin 2
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
TRIOBP TRIO and F-actin binding protein
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHR thyroid stimulating hormone receptor
TUB tubby bipartite transcription factor
UBE3B ubiquitin protein ligase E3B
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)