abnormal vestibular hair cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the mechanoreceptor cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear; afferent and efferent nerve fibers of the vestibular nerve end synaptically on them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the statoconial membrane of the maculae and the cupula of the cristae (Mammalian Phenotype Ontology, MP_0002623)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002623
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Genes

36 gene mutations causing the abnormal vestibular hair cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATF2 activating transcription factor 2
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
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF10 fibroblast growth factor 10
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
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
LOC102723475 putative uncharacterized protein LOC388820
MIR96 microRNA 96
MYO6 myosin VI
MYO7A myosin VIIA
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
POU4F3 POU class 4 homeobox 3
PTPRQ protein tyrosine phosphatase, receptor type, Q
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SOX2 SRY (sex determining region Y)-box 2
SRRM4 serine/arginine repetitive matrix 4
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