abnormal orientation of outer hair cell stereociliary bundles Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium (Mammalian Phenotype Ontology, MP_0004491)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004491
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Genes

18 gene mutations causing the abnormal orientation of outer 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
FAT4 FAT atypical cadherin 4
LRP6 low density lipoprotein receptor-related protein 6
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)
SEC24B SEC24 family member B
USH1C Usher syndrome 1C (autosomal recessive, severe)
VANGL2 VANGL planar cell polarity protein 2