sensorineural hearing impairment Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear (Mammalian Phenotype Ontology, MP_0006329)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006329
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Genes

30 gene mutations causing the sensorineural hearing impairment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
COL11A2 collagen, type XI, alpha 2
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
EMX2 empty spiracles homeobox 2
FGFR3 fibroblast growth factor receptor 3
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GATA3 GATA binding protein 3
GJB6 gap junction protein, beta 6, 30kDa
IDUA iduronidase, alpha-L-
IGF1 insulin-like growth factor 1 (somatomedin C)
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
LARGE like-glycosyltransferase
MPV17 MpV17 mitochondrial inner membrane protein
NDP Norrie disease (pseudoglioma)
NGFR nerve growth factor receptor
POU3F4 POU class 3 homeobox 4
PSAP prosaposin
SCARB2 scavenger receptor class B, member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SYNJ2 synaptojanin 2
THRB thyroid hormone receptor, beta