abnormal cochlear inner hair cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal number of the flask-shaped inner hair sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve (Mammalian Phenotype Ontology, MP_0004394)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004394
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Genes

24 gene mutations causing the abnormal cochlear inner hair cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CDH23 cadherin-related 23
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CHD7 chromodomain helicase DNA binding protein 7
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
EMX2 empty spiracles homeobox 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR1 fibroblast growth factor receptor 1
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HR hair growth associated
IGF1R insulin-like growth factor 1 receptor
JAG1 jagged 1
JAG2 jagged 2
LOC102723475 putative uncharacterized protein LOC388820
NOG noggin
NR2F1 nuclear receptor subfamily 2, group F, member 1
PTK7 protein tyrosine kinase 7 (inactive)
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SRRM4 serine/arginine repetitive matrix 4
TMPRSS3 transmembrane protease, serine 3