abnormal endolymphatic duct morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac (Mammalian Phenotype Ontology, MP_0006011)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006011
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25 gene mutations causing the abnormal endolymphatic duct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
DLX5 distal-less homeobox 5
EFNB2 ephrin-B2
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FOXI1 forkhead box I1
GATA3 GATA binding protein 3
GBX2 gastrulation brain homeobox 2
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
NR4A3 nuclear receptor subfamily 4, group A, member 3
PAX2 paired box 2
PAX3 paired box 3
POU3F4 POU class 3 homeobox 4
SHH sonic hedgehog
SIX1 SIX homeobox 1
SLC26A4 solute carrier family 26 (anion exchanger), member 4
TBX1 T-box 1
VANGL2 VANGL planar cell polarity protein 2
ZEB1 zinc finger E-box binding homeobox 1