abnormal inner ear morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea (Mammalian Phenotype Ontology, MP_0000026)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000026
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Genes

225 gene mutations causing the abnormal inner ear morphology 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
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
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
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BARHL1 BarH-like homeobox 1
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
BDNF brain-derived neurotrophic factor
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
BMP7 bone morphogenetic protein 7
BSN bassoon presynaptic cytomatrix protein
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
CDH23 cadherin-related 23
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
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)
CLDN11 claudin 11
CLDN14 claudin 14
CLDN9 claudin 9
CLIC5 chloride intracellular channel 5
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL9A1 collagen, type IX, alpha 1
CYBA cytochrome b-245, alpha polypeptide
CYS1 cystin 1
DCHS1 dachsous cadherin-related 1
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DLX5 distal-less homeobox 5
DUOX2 dual oxidase 2
DUSP6 dual specificity phosphatase 6
DVL3 dishevelled segment polarity protein 3
EDNRB endothelin receptor type B
EFNB2 ephrin-B2
ELMOD1 ELMO/CED-12 domain containing 1
EMX2 empty spiracles homeobox 2
EPS8 epidermal growth factor receptor pathway substrate 8
EPS8L2 EPS8-like 2
ESPN espin
ESR2 estrogen receptor 2 (ER beta)
EYA1 EYA transcriptional coactivator and phosphatase 1
FAS Fas cell surface death receptor
FAT4 FAT atypical cadherin 4
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
FOXI1 forkhead box I1
FOXI3 forkhead box I3
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
GATA3 GATA binding protein 3
GBX2 gastrulation brain homeobox 2
GFI1 growth factor independent 1 transcription repressor
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
GPX1 glutathione peroxidase 1
GRID1 glutamate receptor, ionotropic, delta 1
GRXCR1 glutaredoxin, cysteine rich 1
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXB2 homeobox B2
HPN hepsin
HR hair growth associated
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT88 intraflagellar transport 88
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
ITGA8 integrin, alpha 8
JAG1 jagged 1
JAG2 jagged 2
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
LAMA2 laminin, alpha 2
LHFPL5 lipoma HMGIC fusion partner-like 5
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
LOXHD1 lipoxygenase homology domains 1
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
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN2B1 mannosidase, alpha, class 2B, member 1
MARVELD2 MARVEL domain containing 2
MCOLN3 mucolipin 3
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
MYO15A myosin XVA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
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
NOG noggin
NOTCH1 notch 1
NOX3 NADPH oxidase 3
NOXO1 NADPH oxidase organizer 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NR4A3 nuclear receptor subfamily 4, group A, member 3
NTN1 netrin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OC90 otoconin 90
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOP1 otopetrin 1
OTOS otospiralin
OTX1 orthodenticle homeobox 1
PAX2 paired box 2
PAX3 paired box 3
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PHEX phosphate regulating endopeptidase homolog, X-linked
POLG polymerase (DNA directed), gamma
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PRRX1 paired related homeobox 1
PSAP prosaposin
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
ROR2 receptor tyrosine kinase-like orphan receptor 2
S1PR2 sphingosine-1-phosphate receptor 2
SCARB2 scavenger receptor class B, member 2
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
SFSWAP splicing factor, suppressor of white-apricot family
SHH sonic hedgehog
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
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
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
SPRY2 sprouty homolog 2 (Drosophila)
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
TBX10 T-box 10
TECTA tectorin alpha
TECTB tectorin beta
TGFB2 transforming growth factor, beta 2
THRA thyroid hormone receptor, alpha
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
TRIOBP TRIO and F-actin binding protein
TSHR thyroid stimulating hormone receptor
TSPAN12 tetraspanin 12
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)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
WDPCP WD repeat containing planar cell polarity effector
ZEB1 zinc finger E-box binding homeobox 1