abnormal scala media morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing) (Mammalian Phenotype Ontology, MP_0003169)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003169
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Genes

180 gene mutations causing the abnormal scala media morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACTG1 actin gamma 1
ADGRV1 adhesion G protein-coupled receptor V1
ALG10 ALG10, alpha-1,2-glucosyltransferase
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BARHL1 BarH-like homeobox 1
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
BDNF brain-derived neurotrophic factor
BMP4 bone morphogenetic protein 4
BSN bassoon presynaptic cytomatrix protein
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CALCB calcitonin-related polypeptide beta
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDH23 cadherin-related 23
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHD7 chromodomain helicase DNA binding protein 7
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CLDN11 claudin 11
CLDN14 claudin 14
CLDN9 claudin 9
CLIC5 chloride intracellular channel 5
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL9A1 collagen, type IX, alpha 1
CYS1 cystin 1
DCHS1 dachsous cadherin-related 1
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DUOX2 dual oxidase 2
DVL3 dishevelled segment polarity protein 3
EDNRB endothelin receptor type B
ELMOD1 ELMO/CED-12 domain containing 1
EMX2 empty spiracles homeobox 2
EPS8 epidermal growth factor receptor pathway substrate 8
EPS8L2 EPS8-like 2
ESPN espin
ESR2 estrogen receptor 2 (ER beta)
EYA1 EYA transcriptional coactivator and phosphatase 1
FAS Fas cell surface death receptor
FAT4 FAT atypical cadherin 4
FBXO2 F-box protein 2
FGF20 fibroblast growth factor 20
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FSCN2 fascin actin-bundling protein 2, retinal
FZD4 frizzled class receptor 4
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
GBX2 gastrulation brain homeobox 2
GFI1 growth factor independent 1 transcription repressor
GJB6 gap junction protein, beta 6, 30kDa
GPX1 glutathione peroxidase 1
GRID1 glutamate receptor, ionotropic, delta 1
GRXCR1 glutaredoxin, cysteine rich 1
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HOXA1 homeobox A1
HOXB2 homeobox B2
HPN hepsin
HR hair growth associated
IDUA iduronidase, alpha-L-
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
JAG1 jagged 1
JAG2 jagged 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMA2 laminin, alpha 2
LHFPL5 lipoma HMGIC fusion partner-like 5
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
LOXHD1 lipoxygenase homology domains 1
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MAN2B1 mannosidase, alpha, class 2B, member 1
MARVELD2 MARVEL domain containing 2
MCOLN3 mucolipin 3
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MPV17 MpV17 mitochondrial inner membrane protein
MSRB3 methionine sulfoxide reductase B3
MYO15A myosin XVA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGFR nerve growth factor receptor
NOG noggin
NOTCH1 notch 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OC90 otoconin 90
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOS otospiralin
PAX2 paired box 2
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PHEX phosphate regulating endopeptidase homolog, X-linked
POLG polymerase (DNA directed), gamma
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PSAP prosaposin
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
ROR2 receptor tyrosine kinase-like orphan receptor 2
S1PR2 sphingosine-1-phosphate receptor 2
SCARB2 scavenger receptor class B, member 2
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
SHH sonic hedgehog
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), 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
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLITRK6 SLIT and NTRK-like family, member 6
SOBP sine oculis binding protein homolog (Drosophila)
SOD1 superoxide dismutase 1, soluble
SOX2 SRY (sex determining region Y)-box 2
SPRY2 sprouty homolog 2 (Drosophila)
SRRM4 serine/arginine repetitive matrix 4
STRC stereocilin
SUN1 Sad1 and UNC84 domain containing 1
SYNE4 spectrin repeat containing, nuclear envelope family member 4
SYNJ2 synaptojanin 2
TECTA tectorin alpha
TECTB tectorin beta
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TPO thyroid peroxidase
TRIOBP TRIO and F-actin binding protein
TSHR thyroid stimulating hormone receptor
TSPAN12 tetraspanin 12
TUB tubby bipartite transcription factor
TYRP1 tyrosinase-related protein 1
UCN urocortin
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
WDPCP WD repeat containing planar cell polarity effector
ZEB1 zinc finger E-box binding homeobox 1