abnormal orientation of cochlear hair cell stereociliary bundles Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium (Mammalian Phenotype Ontology, MP_0004522)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004522
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Genes

28 gene mutations causing the abnormal orientation of cochlear hair cell stereociliary bundles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
CDH23 cadherin-related 23
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CLRN1 clarin 1
DCHS1 dachsous cadherin-related 1
DVL3 dishevelled segment polarity protein 3
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
FGFR1 fibroblast growth factor receptor 1
JAG2 jagged 2
LRP6 low density lipoprotein receptor-related protein 6
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MYO6 myosin VI
MYO7A myosin VIIA
NR2F1 nuclear receptor subfamily 2, group F, member 1
PCDH15 protocadherin-related 15
PTK7 protein tyrosine kinase 7 (inactive)
PTPRQ protein tyrosine phosphatase, receptor type, Q
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
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