abnormal inner ear vestibule morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear (Mammalian Phenotype Ontology, MP_0000034)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000034
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Genes

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

Symbol Name
AP3D1 adaptor-related protein complex 3, delta 1 subunit
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
BDNF brain-derived neurotrophic factor
BMP4 bone morphogenetic protein 4
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CDH23 cadherin-related 23
CLIC5 chloride intracellular channel 5
DLX5 distal-less homeobox 5
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF10 fibroblast growth factor 10
FGF3 fibroblast growth factor 3
FOXI1 forkhead box I1
GATA3 GATA binding protein 3
GBX2 gastrulation brain homeobox 2
GFI1 growth factor independent 1 transcription repressor
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
ITGA8 integrin, alpha 8
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMA2 laminin, alpha 2
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
MARVELD2 MARVEL domain containing 2
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MYO6 myosin VI
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OC90 otoconin 90
OTOG otogelin
OTX1 orthodenticle homeobox 1
PAX2 paired box 2
PAX3 paired box 3
PCDH15 protocadherin-related 15
PHEX phosphate regulating endopeptidase homolog, X-linked
POU4F3 POU class 4 homeobox 3
PTPRQ protein tyrosine phosphatase, receptor type, Q
S1PR2 sphingosine-1-phosphate receptor 2
SHH sonic hedgehog
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SOX2 SRY (sex determining region Y)-box 2
SRRM4 serine/arginine repetitive matrix 4
TBX1 T-box 1
TBX10 T-box 10
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
VANGL2 VANGL planar cell polarity protein 2
ZEB1 zinc finger E-box binding homeobox 1