decreased cochlear hair cell stereocilia number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner and outer hair cells (Mammalian Phenotype Ontology, MP_0004523)
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17 gene mutations causing the decreased cochlear hair cell stereocilia number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTG1 actin gamma 1
ATOH1 atonal homolog 1 (Drosophila)
CDH23 cadherin-related 23
CLDN9 claudin 9
DFNB31 deafness, autosomal recessive 31
EPS8L2 EPS8-like 2
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FSCN2 fascin actin-bundling protein 2, retinal
GRXCR1 glutaredoxin, cysteine rich 1
MYO6 myosin VI
MYO7A myosin VIIA
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PTPRQ protein tyrosine phosphatase, receptor type, Q
TRIOBP TRIO and F-actin binding protein
TSHR thyroid stimulating hormone receptor