abnormal ear morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the structures involved in the ear or vestibular system (Mammalian Phenotype Ontology, MP_0002102)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002102
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Genes

348 gene mutations causing the abnormal ear morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACD adrenocortical dysplasia homolog (mouse)
ACHE acetylcholinesterase (Yt blood group)
ACTG1 actin gamma 1
ADGRV1 adhesion G protein-coupled receptor V1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALG10 ALG10, alpha-1,2-glucosyltransferase
ANKH ANKH inorganic pyrophosphate transport regulator
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APAF1 apoptotic peptidase activating factor 1
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
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
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
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
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
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CDH23 cadherin-related 23
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CDO1 cysteine dioxygenase type 1
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)
CHUK conserved helix-loop-helix ubiquitous kinase
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
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
COL1A1 collagen, type I, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL9A1 collagen, type IX, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTSV cathepsin V
CYBA cytochrome b-245, alpha polypeptide
CYS1 cystin 1
DCHS1 dachsous cadherin-related 1
DDR1 discoidin domain receptor tyrosine kinase 1
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DUOX2 dual oxidase 2
DUSP6 dual specificity phosphatase 6
DVL3 dishevelled segment polarity protein 3
E2F4 E2F transcription factor 4, p107/p130-binding
ECE1 endothelin converting enzyme 1
EDARADD EDAR-associated death domain
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
EIF3C eukaryotic translation initiation factor 3, subunit C
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
EYA4 EYA transcriptional coactivator and phosphatase 4
FAS Fas cell surface death receptor
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBXO11 F-box protein 11
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
FLG filaggrin
FOLR1 folate receptor 1 (adult)
FOXC2 forkhead box C2
FOXI1 forkhead box I1
FOXI3 forkhead box I3
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FREM2 FRAS1 related extracellular matrix protein 2
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
GAS1 growth arrest-specific 1
GATA3 GATA binding protein 3
GBX2 gastrulation brain homeobox 2
GDF6 growth differentiation factor 6
GFI1 growth factor independent 1 transcription repressor
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GPX1 glutathione peroxidase 1
GRB2 growth factor receptor-bound protein 2
GRID1 glutamate receptor, ionotropic, delta 1
GRXCR1 glutaredoxin, cysteine rich 1
GSC goosecoid homeobox
HAND2 heart and neural crest derivatives expressed 2
HAPLN1 hyaluronan and proteoglycan link protein 1
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HESX1 HESX homeobox 1
HFM Hemifacial microsomia
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
HMX1 H6 family homeobox 1
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXA5 homeobox A5
HOXB2 homeobox B2
HPN hepsin
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HR hair growth associated
HSPG2 heparan sulfate proteoglycan 2
HTT huntingtin
IDUA iduronidase, alpha-L-
IFT88 intraflagellar transport 88
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IRF6 interferon regulatory factor 6
ISL1 ISL LIM homeobox 1
ITGA8 integrin, alpha 8
JAG1 jagged 1
JAG2 jagged 2
JAK1 Janus kinase 1
KAT6B K(lysine) acetyltransferase 6B
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
KDF1 keratinocyte differentiation factor 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KMT2A lysine (K)-specific methyltransferase 2A
KRT10 keratin 10, type I
KRT2 keratin 2, type II
LAMA2 laminin, alpha 2
LAMC2 laminin, gamma 2
LHFPL5 lipoma HMGIC fusion partner-like 5
LMNA lamin A/C
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
LYST lysosomal trafficking regulator
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN2B1 mannosidase, alpha, class 2B, member 1
MARVELD2 MARVEL domain containing 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN3 mucolipin 3
MECOM MDS1 and EVI1 complex locus
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MUC5B mucin 5B, oligomeric mucus/gel-forming
MYO15A myosin XVA
MYO3A myosin IIIA
MYO5A myosin VA (heavy chain 12, myoxin)
MYO6 myosin VI
MYO7A myosin VIIA
NABP2 nucleic acid binding protein 2
NAGLU N-acetylglucosaminidase, alpha
NCOA3 nuclear receptor coactivator 3
NDP Norrie disease (pseudoglioma)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
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
NKX3-2 NK3 homeobox 2
NOG noggin
NOTCH1 notch 1
NOX3 NADPH oxidase 3
NOXO1 NADPH oxidase organizer 1
NPTN neuroplastin
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
OCA2 oculocutaneous albinism II
OSR2 odd-skipped related transciption factor 2
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOP1 otopetrin 1
OTOS otospiralin
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PGAP1 post-GPI attachment to proteins 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PITX1 paired-like homeodomain 1
PLAU plasminogen activator, urokinase
POLG polymerase (DNA directed), gamma
POLH polymerase (DNA directed), eta
POU3F3 POU class 3 homeobox 3
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
PSAP prosaposin
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRQ protein tyrosine phosphatase, receptor type, Q
RARA retinoic acid receptor, alpha
RDH10 retinol dehydrogenase 10 (all-trans)
RDX radixin
RND3 Rho family GTPase 3
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL27A ribosomal protein L27a
RPL38 ribosomal protein L38
RSPO2 R-spondin 2
S1PR2 sphingosine-1-phosphate receptor 2
SALL4 spalt-like transcription factor 4
SCARB2 scavenger receptor class B, member 2
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
SFN stratifin
SFSWAP splicing factor, suppressor of white-apricot family
SH3PXD2B SH3 and PX domains 2B
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
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
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)
SPTBN1 spectrin, beta, non-erythrocytic 1
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
TBX15 T-box 15
TCF15 transcription factor 15 (basic helix-loop-helix)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TECTA tectorin alpha
TECTB tectorin beta
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGIF1 TGFB-induced factor homeobox 1
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
TSHZ1 teashirt zinc finger homeobox 1
TSPAN12 tetraspanin 12
TUB tubby bipartite transcription factor
TWIST2 twist family bHLH transcription factor 2
TWSG1 twisted gastrulation BMP signaling modulator 1
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
WDR19 WD repeat domain 19
WNT5A wingless-type MMTV integration site family, member 5A
ZEB1 zinc finger E-box binding homeobox 1
ZIC3 Zic family member 3