abnormal cochlear outer hair cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal number of the columnar outer hair sensory cells of the organ of Corti (Mammalian Phenotype Ontology, MP_0004400)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004400
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Genes

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

Symbol Name
ACAN aggrecan
ALG10 ALG10, alpha-1,2-glucosyltransferase
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
CLDN9 claudin 9
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
CYS1 cystin 1
DFNA5 deafness, autosomal dominant 5
EMX2 empty spiracles homeobox 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
GFI1 growth factor independent 1 transcription repressor
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
MYO3A myosin IIIA
MYO7A myosin VIIA
NOG noggin
NOTCH1 notch 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
PTK7 protein tyrosine kinase 7 (inactive)
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SPRY2 sprouty homolog 2 (Drosophila)
THRB thyroid hormone receptor, beta
TMPRSS3 transmembrane protease, serine 3
TSHR thyroid stimulating hormone receptor
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL2 VANGL planar cell polarity protein 2