abnormal cochlear hair cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve (Mammalian Phenotype Ontology, MP_0004406)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004406
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Genes

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

Symbol Name
ACAN aggrecan
ALG10 ALG10, alpha-1,2-glucosyltransferase
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
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
DFNB31 deafness, autosomal recessive 31
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
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LAMA2 laminin, alpha 2
LOC102723475 putative uncharacterized protein LOC388820
MIR96 microRNA 96
MYO15A myosin XVA
MYO3A myosin IIIA
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NOG noggin
NOTCH1 notch 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
POU4F3 POU class 4 homeobox 3
PTK7 protein tyrosine kinase 7 (inactive)
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SOX2 SRY (sex determining region Y)-box 2
SPRY2 sprouty homolog 2 (Drosophila)
SRRM4 serine/arginine repetitive matrix 4
THRB thyroid hormone receptor, beta
TMPRSS3 transmembrane protease, serine 3
TSHR thyroid stimulating hormone receptor
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL2 VANGL planar cell polarity protein 2