abnormal semicircular canal morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth (Mammalian Phenotype Ontology, MP_0002428)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002428
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Genes

53 gene mutations causing the abnormal semicircular canal morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BDNF brain-derived neurotrophic factor
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CHD7 chromodomain helicase DNA binding protein 7
DLX5 distal-less homeobox 5
EFNB2 ephrin-B2
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF10 fibroblast growth factor 10
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FIGN fidgetin
FOXI1 forkhead box I1
GATA3 GATA binding protein 3
GBX2 gastrulation brain homeobox 2
GLI3 GLI family zinc finger 3
GRXCR1 glutaredoxin, cysteine rich 1
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
IGF1R insulin-like growth factor 1 receptor
JAG1 jagged 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
LRIG3 leucine-rich repeats and immunoglobulin-like domains 3
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MCOLN3 mucolipin 3
MYO6 myosin VI
NAGLU N-acetylglucosaminidase, alpha
NR4A3 nuclear receptor subfamily 4, group A, member 3
NTN1 netrin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OTOG otogelin
OTX1 orthodenticle homeobox 1
PAX2 paired box 2
PAX3 paired box 3
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
SHH sonic hedgehog
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLITRK6 SLIT and NTRK-like family, member 6
SOX2 SRY (sex determining region Y)-box 2
SRRM4 serine/arginine repetitive matrix 4
TBX1 T-box 1
TBX10 T-box 10
VANGL2 VANGL planar cell polarity protein 2
ZEB1 zinc finger E-box binding homeobox 1