vestibular dysfunction Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the functioning of the vestibular apparatus. (Human Phenotype Ontology, HP_0001751)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001751
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Genes

59 genes associated with the vestibular dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
C4A complement component 4A (Rodgers blood group)
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CASQ2 calsequestrin 2 (cardiac muscle)
CDH23 cadherin-related 23
CECR1 cat eye syndrome chromosome region, candidate 1
CIB2 calcium and integrin binding family member 2
CLRN1 clarin 1
COCH cochlin
COL3A1 collagen, type III, alpha 1
EPOR erythropoietin receptor
ESPN espin
FOXI1 forkhead box I1
GATA2 GATA binding protein 2
GCDH glutaryl-CoA dehydrogenase
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
HLA-B major histocompatibility complex, class I, B
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
JAK2 Janus kinase 2
JUP junction plakoglobin
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
MEFV Mediterranean fever
MITF microphthalmia-associated transcription factor
MPL MPL proto-oncogene, thrombopoietin receptor
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYO6 myosin VI
MYO7A myosin VIIA
NAGA N-acetylgalactosaminidase, alpha-
NF2 neurofibromin 2 (merlin)
NOD2 nucleotide-binding oligomerization domain containing 2
OTOGL otogelin-like
PCDH15 protocadherin-related 15
PDGFB platelet-derived growth factor beta polypeptide
POLG polymerase (DNA directed), gamma
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRQ protein tyrosine phosphatase, receptor type, Q
RYR2 ryanodine receptor 2 (cardiac)
SH2B3 SH2B adaptor protein 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
STAT4 signal transducer and activator of transcription 4
TET2 tet methylcytosine dioxygenase 2
THPO thrombopoietin
TLR4 toll-like receptor 4
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TPK1 thiamin pyrophosphokinase 1
TRDN triadin
TYR tyrosinase
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase