syncope Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. (Human Phenotype Ontology, HP_0001279)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001279
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Genes

21 genes associated with the syncope phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANK2 ankyrin 2, neuronal
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CASQ2 calsequestrin 2 (cardiac muscle)
DSC2 desmocollin 2
GPD1L glycerol-3-phosphate dehydrogenase 1-like
JUP junction plakoglobin
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
PKP2 plakophilin 2
PSEN1 presenilin 1
PSEN2 presenilin 2
RYR2 ryanodine receptor 2 (cardiac)
SCN5A sodium channel, voltage gated, type V alpha subunit
SNTA1 syntrophin, alpha 1
TRPM4 transient receptor potential cation channel, subfamily M, member 4