abnormal vestibular hair cell stereociliary bundle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule (Mammalian Phenotype Ontology, MP_0004515)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004515
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Genes

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

Symbol Name
ATF2 activating transcription factor 2
BMP4 bone morphogenetic protein 4
CDH23 cadherin-related 23
FGF10 fibroblast growth factor 10
GRXCR1 glutaredoxin, cysteine rich 1
ITGA8 integrin, alpha 8
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
MIR96 microRNA 96
MYO6 myosin VI
MYO7A myosin VIIA
POU4F3 POU class 4 homeobox 3
PTPRQ protein tyrosine phosphatase, receptor type, Q
SRRM4 serine/arginine repetitive matrix 4
USH1G Usher syndrome 1G (autosomal recessive)