abnormal cochlear ganglion morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) (Mammalian Phenotype Ontology, MP_0002855)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002855
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Genes

80 gene mutations causing the abnormal cochlear ganglion morphology 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
ARSA arylsulfatase A
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BDNF brain-derived neurotrophic factor
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDH23 cadherin-related 23
CLIC5 chloride intracellular channel 5
CYS1 cystin 1
EGR2 early growth response 2
ELMOD1 ELMO/CED-12 domain containing 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FBXO2 F-box protein 2
FGF3 fibroblast growth factor 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
GBX2 gastrulation brain homeobox 2
GFI1 growth factor independent 1 transcription repressor
GPX1 glutathione peroxidase 1
GRXCR1 glutaredoxin, cysteine rich 1
HOXA1 homeobox A1
HPN hepsin
HR hair growth associated
IDUA iduronidase, alpha-L-
IGF1 insulin-like growth factor 1 (somatomedin C)
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
LHFPL5 lipoma HMGIC fusion partner-like 5
LOC102723475 putative uncharacterized protein LOC388820
LOXHD1 lipoxygenase homology domains 1
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MAN2B1 mannosidase, alpha, class 2B, member 1
MARVELD2 MARVEL domain containing 2
MCOLN3 mucolipin 3
MPV17 MpV17 mitochondrial inner membrane protein
MYO15A myosin XVA
MYO6 myosin VI
MYO7A myosin VIIA
NDP Norrie disease (pseudoglioma)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGFR nerve growth factor receptor
NTF3 neurotrophin 3
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PAX2 paired box 2
PCDH15 protocadherin-related 15
PHEX phosphate regulating endopeptidase homolog, X-linked
POLG polymerase (DNA directed), gamma
POU4F1 POU class 4 homeobox 1
POU4F3 POU class 4 homeobox 3
RGN regucalcin
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
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
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SLITRK6 SLIT and NTRK-like family, member 6
SOD1 superoxide dismutase 1, soluble
SRRM4 serine/arginine repetitive matrix 4
SYNJ2 synaptojanin 2
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TUB tubby bipartite transcription factor
USH1C Usher syndrome 1C (autosomal recessive, severe)