impaired vibratory sensation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. (Human Phenotype Ontology, HP_0002495)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002495
Similar Terms
Downloads & Tools

Genes

30 genes associated with the impaired vibratory sensation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATL1 atlastin GTPase 1
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCAF8 DDB1 and CUL4 associated factor 8
FGF14 fibroblast growth factor 14
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FXN frataxin
GBA2 glucosidase, beta (bile acid) 2
HSPD1 heat shock 60kDa protein 1 (chaperonin)
KIAA0196 KIAA0196
KIF5A kinesin family member 5A
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
PDYN prodynorphin
POLG polymerase (DNA directed), gamma
PRKCG protein kinase C, gamma
RTN2 reticulon 2
SACS sacsin molecular chaperone
SAR1B secretion associated, Ras related GTPase 1B
SETX senataxin
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPTBN2 spectrin, beta, non-erythrocytic 2
TPP1 tripeptidyl peptidase I