Pulsatile Tinnitus Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus. (Human Phenotype Ontology, HP_0008629)
External Link https://www.disgenet.org/browser/0/1/0/C0751559
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Genes

20 genes associated with the disease Pulsatile Tinnitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
EMD emerin
FH fumarate hydratase
IFNA2 interferon, alpha 2
KIF1B kinesin family member 1B
LAMC2 laminin, gamma 2
MAX MYC associated factor X
MDH2 malate dehydrogenase 2, NAD (mitochondrial)
NT5E 5'-nucleotidase, ecto (CD73)
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
RET ret proto-oncogene
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11
TMEM127 transmembrane protein 127
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase