abnormal pinna reflex Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the response to an auditory stimulus by a characteristic ear twitch (Mammalian Phenotype Ontology, MP_0001485)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001485
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Genes

54 gene mutations causing the abnormal pinna reflex phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDH23 cadherin-related 23
DFNB31 deafness, autosomal recessive 31
EMX2 empty spiracles homeobox 2
ESPN espin
FBXO11 F-box protein 11
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FOXI1 forkhead box I1
GFI1 growth factor independent 1 transcription repressor
GJB6 gap junction protein, beta 6, 30kDa
ILDR1 immunoglobulin-like domain containing receptor 1
ISL1 ISL LIM homeobox 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KLC2 kinesin light chain 2
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
MCPH1 microcephalin 1
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MYO15A myosin XVA
MYO6 myosin VI
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
OTOF otoferlin
OTOG otogelin
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
RND3 Rho family GTPase 3
SALL4 spalt-like transcription factor 4
SCN8A sodium channel, voltage gated, type VIII alpha subunit
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
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SOX2 SRY (sex determining region Y)-box 2
SPNS2 spinster homolog 2 (Drosophila)
SRRM4 serine/arginine repetitive matrix 4
SUN1 Sad1 and UNC84 domain containing 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGIF1 TGFB-induced factor homeobox 1
TMC1 transmembrane channel-like 1
TRAM2 translocation associated membrane protein 2
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)