deafness Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A decreased magnitude of the sensory perception of sound. (Human Phenotype Ontology, HP_0000365)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001967
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Genes

91 gene mutations causing the deafness 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
AQP4 aquaporin 4
ARSA arylsulfatase A
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
AXIN1 axin 1
BARHL1 BarH-like homeobox 1
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
CLDN11 claudin 11
CLDN14 claudin 14
CLDN9 claudin 9
CLIC5 chloride intracellular channel 5
CLRN1 clarin 1
CSF1R colony stimulating factor 1 receptor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DFNB31 deafness, autosomal recessive 31
EDNRB endothelin receptor type B
ELMOD1 ELMO/CED-12 domain containing 1
EMX2 empty spiracles homeobox 2
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FBXO11 F-box protein 11
FBXO2 F-box protein 2
FGF20 fibroblast growth factor 20
FGFR3 fibroblast growth factor receptor 3
FIGN fidgetin
FOXI1 forkhead box I1
GFI1 growth factor independent 1 transcription repressor
GJB6 gap junction protein, beta 6, 30kDa
GRXCR1 glutaredoxin, cysteine rich 1
GUSB glucuronidase, beta
IDUA iduronidase, alpha-L-
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LHFPL5 lipoma HMGIC fusion partner-like 5
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
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
MSRB3 methionine sulfoxide reductase B3
MYO15A myosin XVA
MYO6 myosin VI
MYO7A myosin VIIA
NDP Norrie disease (pseudoglioma)
OCM oncomodulin
OTOF otoferlin
OTOG otogelin
OTOS otospiralin
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
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
S1PR2 sphingosine-1-phosphate receptor 2
SALL1 spalt-like transcription factor 1
SCARB2 scavenger receptor class B, member 2
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
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC4A2 solute carrier family 4 (anion exchanger), member 2
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
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
TSHR thyroid stimulating hormone receptor
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)