cochlear degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Degeneration of the cochlea. (Human Phenotype Ontology, HP_0005102)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000032
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Genes

53 gene mutations causing the cochlear degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDH23 cadherin-related 23
CLIC5 chloride intracellular channel 5
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
EDNRB endothelin receptor type B
ELMOD1 ELMO/CED-12 domain containing 1
ESPN espin
FBXO2 F-box protein 2
FZD4 frizzled class receptor 4
GATA3 GATA binding protein 3
GFI1 growth factor independent 1 transcription repressor
GJB6 gap junction protein, beta 6, 30kDa
GRXCR1 glutaredoxin, cysteine rich 1
IDUA iduronidase, alpha-L-
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMA2 laminin, alpha 2
LHFPL5 lipoma HMGIC fusion partner-like 5
LOC102723475 putative uncharacterized protein LOC388820
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MPV17 MpV17 mitochondrial inner membrane protein
MYO6 myosin VI
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
NGFR nerve growth factor receptor
PCDH15 protocadherin-related 15
PHEX phosphate regulating endopeptidase homolog, X-linked
POLG polymerase (DNA directed), gamma
POU4F3 POU class 4 homeobox 3
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
S1PR2 sphingosine-1-phosphate receptor 2
SCARB2 scavenger receptor class B, member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SOD1 superoxide dismutase 1, soluble
SYNJ2 synaptojanin 2
THRB thyroid hormone receptor, beta
TMC1 transmembrane channel-like 1
TMPRSS3 transmembrane protease, serine 3
TUB tubby bipartite transcription factor
USH1C Usher syndrome 1C (autosomal recessive, severe)