Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0234166 (
Hyperekplexia
)
84
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
.
Concepts found in the documents ranked by [
Frequency
|
Pointwise Mutual Information
|
Symmetric Conditional Probability
] .
Human Gene/Protein
GLRA1
0.130
SLC6A5
0.063
GLRB
0.022
inhibitory glycine receptor
0.012
ARHGEF9
0.009
GlyT2
0.007
collybistin
0.004
STHE
0.004
LNX2
0.002
GPHN
0.002
PRDM5
0.002
alpha-1 subunit
0.001
LNX
0.001
gephyrin
0.001
GABRA1
0.000
GABRG2
0.000
MIM
0.000
Fukuyama-type congenital muscular dystrophy
0.000
pallid
0.000
CSF1
0.000
more...
Disease
STHE
0.004
Benign neonatal sleep myoclonus
0.003
GPHN
0.002
familial disorder
0.000
hyperventilation syndrome
0.000
mild mental retardation
0.000
epilepsy
0.000
aspiration pneumonia
0.000
spastic paraplegia
0.000
agoraphobia
0.000
focal epilepsy
0.000
keratoconus
0.000
sudden infant death syndrome
0.000
movement disorder
0.000
narcolepsy
0.000
emotional stress
0.000
tetraplegia
0.000
astigmatism
0.000
sclera
0.000
inguinal hernia
0.000
more...
Symptom
Hyperekplexia
0.977
hypertonia
0.010
startle reaction
0.003
Spastic
0.000
myoclonus
0.000
muscle stiffness
0.000
clonus
0.000
spasticity
0.000
abnormal gait
0.000
cyanosis
0.000
seizures
0.000
paraparesis
0.000
hypotonia
0.000
spasm
0.000
tremor
0.000
regurgitation
0.000
dystonia
0.000
syncope
0.000
thinning
0.000
sleepiness
0.000
more...
Drug
Propofol
0.000
lysine
0.000
CSF
0.000
Enzyme
asparagine synthetase
0.000
succinate dehydrogenase
0.000
creatine kinase
0.000
protein kinase C
0.000
Compound
Clonazepam
0.001
Vigabatrin
0.000
Propofol
0.000
Taurine
0.000
GABA
0.000
GABA
0.000
gamma-aminobutyric acid
0.000
asparagine
0.000
A 3
0.000
molybdenum
0.000
isoleucine
0.000
isoleucine
0.000
glutamine
0.000
His
0.000
arginine
0.000
serine
0.000
alanine
0.000
TOF
0.000
Ile
0.000
proline
0.000
more...